Nanopublications LDF server

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

• NP5989.RAQASCW2YuaWYX6_Q6fl9iYwYII4qR0TH-gYGfMcHOZGs130_assertion description "[Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5989.RAQASCW2YuaWYX6_Q6fl9iYwYII4qR0TH-gYGfMcHOZGs130_provenance.
• NP5991.RAVrfVP6pba2urVZ13Tp_z2M71icHuRsjlll6GUWQpbAI130_assertion description "[SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5991.RAVrfVP6pba2urVZ13Tp_z2M71icHuRsjlll6GUWQpbAI130_provenance.
• NP5993.RAfQDE5Y8BKWkS4soPo8JyZiGadMj6g5q094pGFBHtYz8130_assertion description "[Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5993.RAfQDE5Y8BKWkS4soPo8JyZiGadMj6g5q094pGFBHtYz8130_provenance.
• NP5999.RAdd4-Yl989XD1lAj7xfBLsql117FRZKKo55NpYSWisAI130_assertion description "[These results suggest that Gitelman syndrome requires 2 compound heterozygotic mutations and the coexistence of the large deletion in the C-terminal domain with Met672Ile substitution of the TSC could impair the transporter activity underling the hypokalemia and hypomagnesemia in this patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5999.RAdd4-Yl989XD1lAj7xfBLsql117FRZKKo55NpYSWisAI130_provenance.
• NP6004.RAeFDTDx9QUzvkhRe0ZXP31iseJVJogVg_UF_XlgdfVvA130_assertion description "[We evaluated the symptoms and quality of life (QOL) in 50 adult GS patients with confirmed mutations in NCCT, using a standardized questionnaire.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6004.RAeFDTDx9QUzvkhRe0ZXP31iseJVJogVg_UF_XlgdfVvA130_provenance.
• NP6006.RARi73nJq1YlEIUc2fZuN5aTZiHMz5o-PnKxvmgzUk0z0130_assertion description "[We now demonstrate complete linkage of Gitelman's syndrome to the locus encoding the renal thiazide-sensitive Na-Cl cotransporter, and identify a wide variety of non-conservative mutations, consistent with loss of function alleles, in affected subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6006.RARi73nJq1YlEIUc2fZuN5aTZiHMz5o-PnKxvmgzUk0z0130_provenance.
• NP6012.RAVSmky01K6mf-y8ozpUU8gErSBtDGKHib3F8FXMcjudM130_assertion description "[Salla disease, one of three disease phenotypes that manifest increased urinary excretion of unconjugated sialic acid, is an autosomal recessive condition caused by a mutation in SLC17A5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6012.RAVSmky01K6mf-y8ozpUU8gErSBtDGKHib3F8FXMcjudM130_provenance.
• NP6013.RAVgZ-DEl7PVx6Ha6f3RE-8EVJ2ElljxpNO6-BiQYiZ8Q130_assertion description "[The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6013.RAVgZ-DEl7PVx6Ha6f3RE-8EVJ2ElljxpNO6-BiQYiZ8Q130_provenance.
• NP6014.RAeJN9NsAt8bQ1GKEh5lfq41FmJIuWaCohVOZypS1XJ4A130_assertion description "[In the present study, we have identified a large number of mutations in SLC17A5 in patients presenting with either Salla disease or the ISSD phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6014.RAeJN9NsAt8bQ1GKEh5lfq41FmJIuWaCohVOZypS1XJ4A130_provenance.
• NP6015.RAa_rgzZIxYgYNgS8FvoL2YFgEj3oS7kmJ0pVOfmjwNFQ130_assertion description "[Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6015.RAa_rgzZIxYgYNgS8FvoL2YFgEj3oS7kmJ0pVOfmjwNFQ130_provenance.
• NP6018.RAUfVvr2cZa646-rv85vzMYfM3o8qNdt7GkKxHyM2FkWA130_assertion description "[Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6018.RAUfVvr2cZa646-rv85vzMYfM3o8qNdt7GkKxHyM2FkWA130_provenance.
• NP6020.RAYqBtOX6CfahOS9FZ-Hm6wZaatHGKcC_dvyynO8yXdPM130_assertion description "[Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6020.RAYqBtOX6CfahOS9FZ-Hm6wZaatHGKcC_dvyynO8yXdPM130_provenance.
• NP6023.RAWiCcVhBdFoSmb5_ua_30NG8XOKUTi3aHqWllmWL6TwE130_assertion description "[Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6023.RAWiCcVhBdFoSmb5_ua_30NG8XOKUTi3aHqWllmWL6TwE130_provenance.
• NP6032.RAYPObTXgDUxObjnXKcMpABY4ezdPAeI5AQozXhytaLQI130_assertion description "[Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6032.RAYPObTXgDUxObjnXKcMpABY4ezdPAeI5AQozXhytaLQI130_provenance.
• NP6043.RAXq8VfSHN3qdizfRXF-Cdt9nfrtTleyht5BAxLu-r70M130_assertion description "[Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6043.RAXq8VfSHN3qdizfRXF-Cdt9nfrtTleyht5BAxLu-r70M130_provenance.
• NP6044.RAXzSGmbR-CXOhLeGunpgKf77ZYeK0to34q6IxFPRuT3k130_assertion description "[Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6044.RAXzSGmbR-CXOhLeGunpgKf77ZYeK0to34q6IxFPRuT3k130_provenance.
• NP6048.RAfsV1MyCvLvHEe-dMwMYgWuggAhsJ7Pf6SFpF6SYVuzg130_assertion description "[Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6048.RAfsV1MyCvLvHEe-dMwMYgWuggAhsJ7Pf6SFpF6SYVuzg130_provenance.
• NP6052.RAePfpsc0xPDReP1tSb3gfL3SikTn0MsNY8mcK1iHoISc130_assertion description "[Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6052.RAePfpsc0xPDReP1tSb3gfL3SikTn0MsNY8mcK1iHoISc130_provenance.
• NP6055.RAfceVRyKfD8Fb2tbQSiZo0IxKoXqVffVXUuODety1qx0130_assertion description "[An inherited defect in intestinal anion exchange, congenital chloride diarrhea (CLD), was recently shown to be caused by mutations in the down-regulated in adenoma (DRA) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6055.RAfceVRyKfD8Fb2tbQSiZo0IxKoXqVffVXUuODety1qx0130_provenance.
• NP6058.RAcOsYHWP0NOQhKaPNGD5lii6xD3hFQ0lbUgXEz1ql9gs130_assertion description "[Update on SLC26A3 mutations in congenital chloride diarrhea.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6058.RAcOsYHWP0NOQhKaPNGD5lii6xD3hFQ0lbUgXEz1ql9gs130_provenance.
• NP6061.RAYjIx05ylDwFMD-ovIyGLGxGmKj8yXpFVMcIl22IrK74130_assertion description "[Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6061.RAYjIx05ylDwFMD-ovIyGLGxGmKj8yXpFVMcIl22IrK74130_provenance.
• NP6069.RAc7Y_EJvXdrK4Z-ba2M0RGKxy9SiDZOI4wTZMU54CYiY130_assertion description "[Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6069.RAc7Y_EJvXdrK4Z-ba2M0RGKxy9SiDZOI4wTZMU54CYiY130_provenance.
• NP6072.RAYS6FAV_qnK1xk6vyreGcwlUnQmajLe1yTlTiBhQP--A130_assertion description "[These studies provide compelling evidence that defects in pendrin cause Pendred syndrome thereby launching a new area of investigation into thyroid physiology, the pathogenesis of congenital deafness and the role of altered sulphate transport in human disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6072.RAYS6FAV_qnK1xk6vyreGcwlUnQmajLe1yTlTiBhQP--A130_provenance.
• NP6073.RAUw14m2ntujJy_y_BjhNKlXVYSxpBSnCdmnQQh8N-PbE130_assertion description "[Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6073.RAUw14m2ntujJy_y_BjhNKlXVYSxpBSnCdmnQQh8N-PbE130_provenance.
• NP6079.RAQuHX9Cv5v69S7leWSwgal-joR5vp8NaDkxKG5gOdzPg130_assertion description "[Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6079.RAQuHX9Cv5v69S7leWSwgal-joR5vp8NaDkxKG5gOdzPg130_provenance.
• NP6086.RARJ_QXh4UnKKzim_ceIvWq-w36lOnEHns3bmgMmc2PM4130_assertion description "[H syndrome: novel and recurrent mutations in SLC29A3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6086.RARJ_QXh4UnKKzim_ceIvWq-w36lOnEHns3bmgMmc2PM4130_provenance.
• NP6096.RAZ6kC0KQm4uc3KVN3ejFBgSfVcQ35xS3UcnUNGRCgVM4130_assertion description "[Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6096.RAZ6kC0KQm4uc3KVN3ejFBgSfVcQ35xS3UcnUNGRCgVM4130_provenance.
• NP6101.RAeQYf2XzgLdqE9eiORR5H4iB-4zlkNhq7kpRGvdx4Dzc130_assertion description "[GLUT-1 deficiency without epilepsy--an exceptional case.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6101.RAeQYf2XzgLdqE9eiORR5H4iB-4zlkNhq7kpRGvdx4Dzc130_provenance.
• NP6105.RAf7Ht4m9OA9SYIlMpAwW9tS-oFaEScMU87ssEeuwVRJw130_assertion description "[Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6105.RAf7Ht4m9OA9SYIlMpAwW9tS-oFaEScMU87ssEeuwVRJw130_provenance.
• NP6107.RAcZP60EjYvXQ5b55BG8C-uVMBdsHzxLRFHddr8g19n6M130_assertion description "[Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6107.RAcZP60EjYvXQ5b55BG8C-uVMBdsHzxLRFHddr8g19n6M130_provenance.
• NP6108.RAeR26bkiZkmBXe5y4batWsp53L9GzjKTXe7t3OU87WXM130_assertion description "[Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6108.RAeR26bkiZkmBXe5y4batWsp53L9GzjKTXe7t3OU87WXM130_provenance.
• NP6114.RAQZKGiqnJcN5nl56ApTYsAn42-KrjcjnxSEd83Qn8bww130_assertion description "[Homozygous SLC2A9 mutations cause severe renal hypouricemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6114.RAQZKGiqnJcN5nl56ApTYsAn42-KrjcjnxSEd83Qn8bww130_provenance.
• NP6116.RAbc7H1ga2A-tnb1GFWwLo0cvI6c6joYM1gfRF7Yjt1NY130_assertion description "[Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6116.RAbc7H1ga2A-tnb1GFWwLo0cvI6c6joYM1gfRF7Yjt1NY130_provenance.
• NP6125.RARS8oYHCHdJK8bq_P308DuG_g1q8UHOaYTa75BNdUsW4130_assertion description "[Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6125.RARS8oYHCHdJK8bq_P308DuG_g1q8UHOaYTa75BNdUsW4130_provenance.
• NP6126.RAVPoeRD5OwDJDJliw7d_EmlYgWn4xZNL8xbioBTdQ5Lg130_assertion description "[Both inheritance and functional studies identified the gene encoding the proton amino acid transporter SLC36A2 (PAT2) as the major gene responsible for IG in these families, and its inheritance was consistent with a classical semidominant pattern in which 2 inherited nonfunctional alleles conferred the IG phenotype, while 1 nonfunctional allele was sufficient to confer the HG phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6126.RAVPoeRD5OwDJDJliw7d_EmlYgWn4xZNL8xbioBTdQ5Lg130_provenance.
• NP6128.RAcndlIy68TevDwup-ZyAYvV5n95DOK8oBoZETEj3MQUI130_assertion description "[A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6128.RAcndlIy68TevDwup-ZyAYvV5n95DOK8oBoZETEj3MQUI130_provenance.
• NP6129.RAftoF1Sey9KitaBD38hGCm7sNCsZJ9M_ns4Jo0MhcDxM130_assertion description "[Glycogen storage disease type Ib: the first case in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6129.RAftoF1Sey9KitaBD38hGCm7sNCsZJ9M_ns4Jo0MhcDxM130_provenance.
• NP6133.RAQFpbNCx_NnfIXE-yRmGWx-6BlOImkR5euOIt7aPOTd8130_assertion description "[Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6133.RAQFpbNCx_NnfIXE-yRmGWx-6BlOImkR5euOIt7aPOTd8130_provenance.
• NP6136.RActw_04RC-hTSX-l7MQiDFyKTBrnt9WMh4aT1uUGxHEY130_assertion description "[Glycogen storage disease type Ib without neutropenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6136.RActw_04RC-hTSX-l7MQiDFyKTBrnt9WMh4aT1uUGxHEY130_provenance.
• NP6138.RAbSn6sO6o6gNyOW4rgG0cKvG_NuzCxFiqQ-voIA9Ievw130_assertion description "[The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6138.RAbSn6sO6o6gNyOW4rgG0cKvG_NuzCxFiqQ-voIA9Ievw130_provenance.
• NP6139.RAbHVWt3WGqXVzMsTezT9f2VQKOfQdTXt0bpX3U7m1SH8130_assertion description "[Novel SLC39A4 mutations in acrodermatitis enteropathica.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6139.RAbHVWt3WGqXVzMsTezT9f2VQKOfQdTXt0bpX3U7m1SH8130_provenance.
• NP6142.RAeJtPiNzK771WDR817mVpbFC1KCMngrmqtZw4-Jy8szY130_assertion description "[Mutations in the SLC3A1 transporter gene in cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6142.RAeJtPiNzK771WDR817mVpbFC1KCMngrmqtZw4-Jy8szY130_provenance.
• NP6145.RAWaMe_mlUtbzWIxZY6RE0zpU9bsbAzm8C3JiWW5RvUDc130_assertion description "[Two responsible genes have been identified so far: Mutations in the SLC3A1 gene encoding the heavy chain rbAT of the renal cystine transport system rbAT/b(0,+)AT cause cystinuria type I, while variants in SLC7A9, the gene of its light chain b(0,+)AT, have been demonstrated in non-type I cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6145.RAWaMe_mlUtbzWIxZY6RE0zpU9bsbAzm8C3JiWW5RvUDc130_provenance.
• NP6151.RAYrM937_DrtrPIOUc6lzC8dMGgiidtj2uUf8Zam4agNc130_assertion description "[A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6151.RAYrM937_DrtrPIOUc6lzC8dMGgiidtj2uUf8Zam4agNc130_provenance.
• NP6159.RAbMZd3lpcrr8IJvDP_GfkiNgPkzYer64MwXC4vQQyRw8130_assertion description "[Mutations in the solute carrier family 45, member 2 gene (SLC45A2, also called MATP) cause oculocutaneous albinism type 4 (OCA4), which is the second most prevalent type of OCA in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6159.RAbMZd3lpcrr8IJvDP_GfkiNgPkzYer64MwXC4vQQyRw8130_provenance.
• NP6161.RAXr7AHd9LqlMjscCJkVN7w0Xv1oW_OsZif5EpF4GrfyM130_assertion description "[A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6161.RAXr7AHd9LqlMjscCJkVN7w0Xv1oW_OsZif5EpF4GrfyM130_provenance.
• NP6162.RAQWyzKQysAKQjrr5hgLGfV1NLUucx7TbJdSF7Ycq5tdg130_assertion description "[Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6162.RAQWyzKQysAKQjrr5hgLGfV1NLUucx7TbJdSF7Ycq5tdg130_provenance.
• NP6163.RARDRQZpsrMrcH2OU3-hNaGIhd5ekQefsPCY65eYFSYtM130_assertion description "[Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6163.RARDRQZpsrMrcH2OU3-hNaGIhd5ekQefsPCY65eYFSYtM130_provenance.
• NP6165.RAU7DEv-8lrlq8UHzdtf10RcoTkKeYtEzfjMORuzn8W-Q130_assertion description "[Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6165.RAU7DEv-8lrlq8UHzdtf10RcoTkKeYtEzfjMORuzn8W-Q130_provenance.
• NP6173.RAWrJ2yxjSK5nAa8RJ2C-H9K4B5QdG0_M8mQneWIc4Ucg130_assertion description "[Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6173.RAWrJ2yxjSK5nAa8RJ2C-H9K4B5QdG0_M8mQneWIc4Ucg130_provenance.
• NP6176.RAdaAIHf25PJ6zOM18qWnfdTPDOlGAcPoq9hNIIp6iB-A130_assertion description "[Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6176.RAdaAIHf25PJ6zOM18qWnfdTPDOlGAcPoq9hNIIp6iB-A130_provenance.
• NP6179.RARkGrRj1KHqCl6jqOHylmlImj_gPjYRjVVY6pOLntGmI130_assertion description "[Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6179.RARkGrRj1KHqCl6jqOHylmlImj_gPjYRjVVY6pOLntGmI130_provenance.
• NP6182.RAZQhL_4EAjd_Cp_58rgFWZttNPD6-gUUiQee9ngn6XaM130_assertion description "[Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6182.RAZQhL_4EAjd_Cp_58rgFWZttNPD6-gUUiQee9ngn6XaM130_provenance.
• NP6183.RAXghy25UOGKEoMfNmSCHKnrdBIDCuCYTL2LikIZxrUSA130_assertion description "[Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6183.RAXghy25UOGKEoMfNmSCHKnrdBIDCuCYTL2LikIZxrUSA130_provenance.
• NP6189.RAdZ8iLSu8G1RZUV19fgUVuJWA8AxXe2GHm3TiG9aB48c130_assertion description "[Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6189.RAdZ8iLSu8G1RZUV19fgUVuJWA8AxXe2GHm3TiG9aB48c130_provenance.
• NP6190.RAR4ZehDilCkI_QZXJ_YAU4g3G-xl3C2dAZjY2yxxXH_o130_assertion description "[A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6190.RAR4ZehDilCkI_QZXJ_YAU4g3G-xl3C2dAZjY2yxxXH_o130_provenance.
• NP6195.RAQr8A-2SyeF0aBlqn6EznDNLOyGXzASvE8dlsEQXaOOM130_assertion description "[Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6195.RAQr8A-2SyeF0aBlqn6EznDNLOyGXzASvE8dlsEQXaOOM130_provenance.
• NP6196.RAezTutZrOjPAeXhJZ7ZzU_gq588fBBsch3QmqnNIjijI130_assertion description "[We have now amplified SGLT1 complementary DNA and genomic DNA from members of a family affected with GGM by the polymerase chain reaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6196.RAezTutZrOjPAeXhJZ7ZzU_gq588fBBsch3QmqnNIjijI130_provenance.
• NP6197.RAeYFq0EFRjMAU0JWZ0xi94sAlrzpNWFmfjZtWq89ZoXk130_assertion description "[An SGLT1 missense mutation underlies hereditary glucose/galactose malabsorption, characterized by potentially fatal diarrhea; conversely, oral rehydration therapy exploits normal transport to alleviate life-threatening diarrhea of infectious origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6197.RAeYFq0EFRjMAU0JWZ0xi94sAlrzpNWFmfjZtWq89ZoXk130_provenance.
• NP6200.RAeh7pv6zLXKYpnRsuD_iFzOtKoRZ0FH-Z-6G28xZ-rLw130_assertion description "[These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6200.RAeh7pv6zLXKYpnRsuD_iFzOtKoRZ0FH-Z-6G28xZ-rLw130_provenance.
• NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_assertion description "[Population frequencies for the most common mutated SLC6A19 alleles are 0.007 for 517G --> A and 0.001 for 718C --> T. Our findings indicate that SLC6A19 is the long-sought gene that is mutated in Hartnup disorder; its identification provides the opportunity to examine the inconsistent multisystemic features of this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6205.RAd5wI1z_CbNtc1mLTsatu3IGJiptdg1iP0uxK_YRXXdc130_provenance.
• NP6210.RAZVHexISOxBI880qeR7qdu6fV30Jbqo_EEKqc4ni-lOo130_assertion description "[High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6210.RAZVHexISOxBI880qeR7qdu6fV30Jbqo_EEKqc4ni-lOo130_provenance.
• NP6213.RAftLo1-svb9aRShA9JngMDWo5GkcP7RAMCSTfpDaYfZs130_assertion description "[Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6213.RAftLo1-svb9aRShA9JngMDWo5GkcP7RAMCSTfpDaYfZs130_provenance.
• NP6215.RAf4-9Pxab1JfCAWne-HScuufW9zsTVwcnORl3kMbLD0M130_assertion description "[Our results provide evidence that some SLC7A9 mutations may be associated with fully recessive (Type I) forms of cystinuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6215.RAf4-9Pxab1JfCAWne-HScuufW9zsTVwcnORl3kMbLD0M130_provenance.
• NP6217.RAeqbqlbXnIFtF9UVeUsE_HoiO5R85YvnNE6Z6-7oYDOo130_assertion description "[A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6217.RAeqbqlbXnIFtF9UVeUsE_HoiO5R85YvnNE6Z6-7oYDOo130_provenance.
• NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_assertion description "[SMAD3 mutations were recently described in patients with aneurysms osteoarthritis syndrome and some of the features of this syndrome were identified in individuals in our cohort, but these features were notably absent in many SMAD3 mutation carriers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6227.RAYZWBO-M6DqQaHIH85kyskuWJwhzPzl3m0UQg49m5mqg130_provenance.
• NP6229.RAUnQU0ttxFtWxUo0ac9SoRwfW5XNMOSYdHHBpMo7PxPQ130_assertion description "[A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6229.RAUnQU0ttxFtWxUo0ac9SoRwfW5XNMOSYdHHBpMo7PxPQ130_provenance.
• NP6233.RARW7712s0XZjTMK_-O-2Dgl7HW2RhAlvFFWDdNBgmigE130_assertion description "[Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6233.RARW7712s0XZjTMK_-O-2Dgl7HW2RhAlvFFWDdNBgmigE130_provenance.
• NP6238.RAaojqx1IeL92zfdgBucNGsaXeLIgwDSWe8Ilud488uaw130_assertion description "[SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6238.RAaojqx1IeL92zfdgBucNGsaXeLIgwDSWe8Ilud488uaw130_provenance.
• NP6240.RAbzSdbOh9v3nqyJ2I7mdpypoSkw75ZqU9N-zk5ImwnXQ130_assertion description "[Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6240.RAbzSdbOh9v3nqyJ2I7mdpypoSkw75ZqU9N-zk5ImwnXQ130_provenance.
• NP6241.RAWD18P_mWRR3qnEoUifbuw9tJeRxLxcd98huqjadisV4130_assertion description "[Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6241.RAWD18P_mWRR3qnEoUifbuw9tJeRxLxcd98huqjadisV4130_provenance.
• NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_assertion description "[Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6244.RAVFXznCYkPMjnWnc7HKwFM45b_A0Ge9mkdWaPv_OTXbY130_provenance.
• NP6246.RAQRKxq19agQ4sPv_cJ8If3JDhmAvthdZbkcQrQkpNI2M130_assertion description "[Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6246.RAQRKxq19agQ4sPv_cJ8If3JDhmAvthdZbkcQrQkpNI2M130_provenance.
• NP6248.RAdutPQ7PQoY08i10AVzgEOK7to67TQocJJUMThbpGbYQ130_assertion description "[Identification of a novel missense mutation of the SMN(T) gene in two siblings with spinal muscular atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6248.RAdutPQ7PQoY08i10AVzgEOK7to67TQocJJUMThbpGbYQ130_provenance.
• NP6258.RAcB4UStdl1dC_FmUEooyJ4C_BWiE-Woa2kTTiCTMt3gk130_assertion description "[A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6258.RAcB4UStdl1dC_FmUEooyJ4C_BWiE-Woa2kTTiCTMt3gk130_provenance.
• NP6261.RAeP3blj8P3r_I5X9Cu8l0Y9rqVzGH4nXbTYCRbJsfeSA130_assertion description "[Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6261.RAeP3blj8P3r_I5X9Cu8l0Y9rqVzGH4nXbTYCRbJsfeSA130_provenance.
• NP6263.RATCopexwar0eqzU29kzXKSDsJ3oEop5_qNaxifFtDB5I130_assertion description "[Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6263.RATCopexwar0eqzU29kzXKSDsJ3oEop5_qNaxifFtDB5I130_provenance.
• NP6275.RAeS5vvDqVzHTYxBcGonNwxSZVZumD1nbe_gbVaquivT4130_assertion description "[Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6275.RAeS5vvDqVzHTYxBcGonNwxSZVZumD1nbe_gbVaquivT4130_provenance.
• NP6277.RAbf7PQPp_PJGlUVmxYioid0bkN9UNdekdDos7GXcf5RM130_assertion description "[Mutation E46K increases phospholipid binding and assembly into filaments of human alpha-synuclein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6277.RAbf7PQPp_PJGlUVmxYioid0bkN9UNdekdDos7GXcf5RM130_provenance.
• NP6283.RASx47nBo6rLWSfPYJweoDO7K67T9Un67rcD8b76BYwkE130_assertion description "[Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6283.RASx47nBo6rLWSfPYJweoDO7K67T9Un67rcD8b76BYwkE130_provenance.
• NP6286.RARDu49F677iERp-udU70pJHWxxur1ju28CyIQE-hIpts130_assertion description "[Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6286.RARDu49F677iERp-udU70pJHWxxur1ju28CyIQE-hIpts130_provenance.
• NP6288.RARbk_op3Fgkzxz0GUFKRHi1Ia9XN43jCUoc7lKte13kY130_assertion description "[A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6288.RARbk_op3Fgkzxz0GUFKRHi1Ia9XN43jCUoc7lKte13kY130_provenance.
• NP6294.RAeEzDwZpakjPq0p5gV5ZUSj8wxUYD-3HM8p8BACdHWyQ130_assertion description "[SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6294.RAeEzDwZpakjPq0p5gV5ZUSj8wxUYD-3HM8p8BACdHWyQ130_provenance.
• NP6301.RAVCv25Z1r_dzx42KZlqBrxmxyYqfsWCyrIhuU7CaeJ6o130_assertion description "[Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6301.RAVCv25Z1r_dzx42KZlqBrxmxyYqfsWCyrIhuU7CaeJ6o130_provenance.
• NP6302.RAa4OMy2BZxXv4a21B3fZJLv0eeWMeebTxAB1yeUuA26U130_assertion description "[A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6302.RAa4OMy2BZxXv4a21B3fZJLv0eeWMeebTxAB1yeUuA26U130_provenance.
• NP6310.RAZJxXLUxVog9chgmUa1bsdOiC7Pzjb7AAF3XgpMqKMWs130_assertion description "[Novel missense mutation in the HMG box of SOX9 gene in a Japanese XY male resulted in campomelic dysplasia and severe defect in masculinization.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6310.RAZJxXLUxVog9chgmUa1bsdOiC7Pzjb7AAF3XgpMqKMWs130_provenance.
• NP6313.RASIxjZyQM4M1ok9NmqcuBSzIpiTsm-l5tqj2DLJ4abzw130_assertion description "[Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6313.RASIxjZyQM4M1ok9NmqcuBSzIpiTsm-l5tqj2DLJ4abzw130_provenance.
• NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion description "[Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance.
• NP6319.RAfyXMPpLa9dHq4gdN3usKwcxUzF-RnTWQk1-__SCKi3A130_assertion description "[The most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family of ATPases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6319.RAfyXMPpLa9dHq4gdN3usKwcxUzF-RnTWQk1-__SCKi3A130_provenance.
• NP6330.RAUgBBRz9IKBhRWGWQSdfaZ6gqfgpntFVePm12qIsuhzo130_assertion description "[The yeast complementation assay thus can serve as a reliable system to distinguish a pathogenic mutation from a silent polymorphism for any novel SPG7 sequence variant, which will facilitate the interpretation of genetic data for SPG7.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6330.RAUgBBRz9IKBhRWGWQSdfaZ6gqfgpntFVePm12qIsuhzo130_provenance.
• NP6332.RAZwcju2_3XNOEUJ5IELikzlUj-Vh7B09S77jSvKUWno4130_assertion description "[Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6332.RAZwcju2_3XNOEUJ5IELikzlUj-Vh7B09S77jSvKUWno4130_provenance.
• NP6333.RAXkalI1t-Yr0XtMfwAsbSyvn5AYDOyAzmtTiz2K007ok130_assertion description "[Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6333.RAXkalI1t-Yr0XtMfwAsbSyvn5AYDOyAzmtTiz2K007ok130_provenance.
• NP6336.RAc6FiZvRqrV1pp2I312aIXOKYl1f2nG8SOnnMCn9mfsk130_assertion description "[Legius syndrome in fourteen families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6336.RAc6FiZvRqrV1pp2I312aIXOKYl1f2nG8SOnnMCn9mfsk130_provenance.
• NP6337.RAdOxO67n1roiEFIhYMHb1-UH4Rb3zUbyl3iGjyjGDVrc130_assertion description "[Novel human pathological mutations. Gene symbol: SPRED1. Disease: Legius syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6337.RAdOxO67n1roiEFIhYMHb1-UH4Rb3zUbyl3iGjyjGDVrc130_provenance.
• NP6350.RAc11DRuoFnZbWkLuBbxJ3Us6C_KeUzjhR_y3csheUnLM130_assertion description "[Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6350.RAc11DRuoFnZbWkLuBbxJ3Us6C_KeUzjhR_y3csheUnLM130_provenance.
• NP6351.RAXJuslc1cJzY9SZ3KG9IRNQA2j6h8bYb5DKvFcVDQCQI130_assertion description "[A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6351.RAXJuslc1cJzY9SZ3KG9IRNQA2j6h8bYb5DKvFcVDQCQI130_provenance.
• NP6353.RAd7Kp5VgCoR23ZPfjbHg5NfIWrn0o1nhxaDF8ChHO_bo130_assertion description "[Spectrin cagliari. an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6353.RAd7Kp5VgCoR23ZPfjbHg5NfIWrn0o1nhxaDF8ChHO_bo130_provenance.
• NP6361.RAV_nMb41D99Wq-FltLbEX1gM6F4zkQ5ri-RR0XPFcHFA130_assertion description "[Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6361.RAV_nMb41D99Wq-FltLbEX1gM6F4zkQ5ri-RR0XPFcHFA130_provenance.
• NP6363.RAfNYBcNCeWGwcFzN2tvhUG2CcIpAH7oLkQ2XcZxjAnLU130_assertion description "[Disruptions of the C-terminal domain of SQSTM1 seem to be a leading cause of familial PDB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6363.RAfNYBcNCeWGwcFzN2tvhUG2CcIpAH7oLkQ2XcZxjAnLU130_provenance.
• NP6369.RAXTYsR9fvFyrNdRFXzhcyRcDRD-ollDpTsHWtniXqxuY130_assertion description "[Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6369.RAXTYsR9fvFyrNdRFXzhcyRcDRD-ollDpTsHWtniXqxuY130_provenance.

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