Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP3139.RAYAAQhEQsWYx1cFxubZSd0zBpvtP4HjqG0i4HnCgKnXo130_assertion description "[Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3139.RAYAAQhEQsWYx1cFxubZSd0zBpvtP4HjqG0i4HnCgKnXo130_provenance.
- NP3143.RAcjnO6rhefxBC0gWdvsx9npgemx36wGSRuhwLf7UyF9M130_assertion description "[Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3143.RAcjnO6rhefxBC0gWdvsx9npgemx36wGSRuhwLf7UyF9M130_provenance.
- NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_assertion description "[Functional characterization of the novel L108W and P186L mutations detected in the type II 3 beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3152.RAYLh_9q4zE5k51jUnduky79gDl4yLMPVjW56ESDWoHaM130_provenance.
- NP3163.RARL9gLLrNQmVADlSgwG0ZxHdzMuNaVD-Z0nX5TtMtsv0130_assertion description "[Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3163.RARL9gLLrNQmVADlSgwG0ZxHdzMuNaVD-Z0nX5TtMtsv0130_provenance.
- NP3167.RAY5ffEDf3kJVuOR5fHo9p4fmHIpAmdFeL9D7nAmJGt3I130_assertion description "[Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3167.RAY5ffEDf3kJVuOR5fHo9p4fmHIpAmdFeL9D7nAmJGt3I130_provenance.
- NP3170.RAYHI8wbkf5GpEzj1Zlu0juevk9gAu3fhrzWAsjOEBoAE130_assertion description "[Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3170.RAYHI8wbkf5GpEzj1Zlu0juevk9gAu3fhrzWAsjOEBoAE130_provenance.
- NP3172.RAdH2y_oNUQFxbRGAmBSP28fUThSRUO7Xxa7fTwJwKd-0130_assertion description "[A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3172.RAdH2y_oNUQFxbRGAmBSP28fUThSRUO7Xxa7fTwJwKd-0130_provenance.
- NP3173.RAeFjVlVu9d71G0IA0AkFm0-KURGdzJD_cn4MTBfVzcKI130_assertion description "[IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3173.RAeFjVlVu9d71G0IA0AkFm0-KURGdzJD_cn4MTBfVzcKI130_provenance.
- NP3177.RAQMReg5jsYk7AQdB2zPaRt7vPHpez_ABRg2Ox7GSNzvI130_assertion description "[The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3177.RAQMReg5jsYk7AQdB2zPaRt7vPHpez_ABRg2Ox7GSNzvI130_provenance.
- NP3178.RATqPj-_JehFE69gSCs5L65sj4zQaGKq2CWSeRt2p8Wt8130_assertion description "[Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3178.RATqPj-_JehFE69gSCs5L65sj4zQaGKq2CWSeRt2p8Wt8130_provenance.
- NP3180.RAXdofzzK40tLL6UYIcRzOoAV7FaYLLeGjRL5jKBOyJ7U130_assertion description "[Identification of 9 novel IDS gene mutations in 19 unrelated Hunter syndrome (mucopolysaccharidosis Type II) patients. Mutations in brief no. 202. Online.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3180.RAXdofzzK40tLL6UYIcRzOoAV7FaYLLeGjRL5jKBOyJ7U130_provenance.
- NP3192.RAT9tGlvTdvey29JXM9LBR3Egyf_6ylziP5SoNlP_e3LI130_assertion description "[Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3192.RAT9tGlvTdvey29JXM9LBR3Egyf_6ylziP5SoNlP_e3LI130_provenance.
- NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_assertion description "[alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I, MPS I) involves a broad spectrum of clinical severity ranging from a severe Hurler syndrome through an intermediate Hurler Scheie syndrome to a mild Scheie syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3196.RASBawxm3FC4ZYhAC6EvThfjFwNwcNaR6f8thZsDbaxlo130_provenance.
- NP3198.RASzu7L_HaCa4E6GXb2AxMQWDrwOyBVdwpMOhpJFHir10130_assertion description "[In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the lysosomal storage disorder, Mucopolysaccharidosis type I (MPS-I).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3198.RASzu7L_HaCa4E6GXb2AxMQWDrwOyBVdwpMOhpJFHir10130_provenance.
- NP3201.RAaAMTmHaih_9rNy1TliUbqjuRUsrUTdmEHpwJr-Nkc98130_assertion description "[In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3201.RAaAMTmHaih_9rNy1TliUbqjuRUsrUTdmEHpwJr-Nkc98130_provenance.
- NP3202.RAWUoZaw6SIiAayUsJwFbjRGMfMntaOMeGAxHvTmVA6Os130_assertion description "[Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Gurin infection and a sibling with clinical tuberculosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3202.RAWUoZaw6SIiAayUsJwFbjRGMfMntaOMeGAxHvTmVA6Os130_provenance.
- NP3204.RAaXQ2m4Qoh-NzgVUB4MuN6TqERw6cMMSsIdgTeVWdSIo130_assertion description "[Because not all of our patients harbored mutations in IFT122, CED seems to be genetically heterogeneous.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3204.RAaXQ2m4Qoh-NzgVUB4MuN6TqERw6cMMSsIdgTeVWdSIo130_provenance.
- NP3209.RAakUCpuBNStX5zeNPEAvcRoCYTw-zBdP6tMaa73sxEmI130_assertion description "[Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3209.RAakUCpuBNStX5zeNPEAvcRoCYTw-zBdP6tMaa73sxEmI130_provenance.
- NP3211.RAfDsCWQHefzngkCcE5g7Vaj_UvXgSMDhf__7oSlA9dxQ130_assertion description "[Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3211.RAfDsCWQHefzngkCcE5g7Vaj_UvXgSMDhf__7oSlA9dxQ130_provenance.
- NP3218.RAc4AiWKrJV1Gq7JnW0zuASaADSlfJ7ZYQnKGi1ZphElE130_assertion description "[A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3218.RAc4AiWKrJV1Gq7JnW0zuASaADSlfJ7ZYQnKGi1ZphElE130_provenance.
- NP3227.RAbyM8QsT4lvF4ll-rPvP3nMlZ-MAlmy4Lok1nIvvv7v0130_assertion description "[IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3227.RAbyM8QsT4lvF4ll-rPvP3nMlZ-MAlmy4Lok1nIvvv7v0130_provenance.
- NP3229.RAdEuMtN6ntGzfzOH1N9bx5fbEN240RSSzQ_YB_rQQABM130_assertion description "[Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3229.RAdEuMtN6ntGzfzOH1N9bx5fbEN240RSSzQ_YB_rQQABM130_provenance.
- NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_assertion description "[Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3238.RAYI6X9gRGVMeTesp6iRqy1XpQB4KewzHb3F-mUT6OiQQ130_provenance.
- NP3249.RATM3Te8B2enN2xq7BCX-anLeqFWlFc3nmb7ny8OiRsuY130_assertion description "[Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3249.RATM3Te8B2enN2xq7BCX-anLeqFWlFc3nmb7ny8OiRsuY130_provenance.
- NP3250.RAV7Mg3CmEhewJwlVzDBSIfS4c-9FSkSPV9pze4ClnWGQ130_assertion description "[Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3250.RAV7Mg3CmEhewJwlVzDBSIfS4c-9FSkSPV9pze4ClnWGQ130_provenance.
- NP3251.RARC2zwS9NtRTtVxdEkxsknrlQYEd5YabBnxRqAkBC6Fg130_assertion description "[Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3251.RARC2zwS9NtRTtVxdEkxsknrlQYEd5YabBnxRqAkBC6Fg130_provenance.
- NP3252.RAQpHIBbQ51V530395GPAEhTr87dC39N78m08mgHvxYXw130_assertion description "[Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3252.RAQpHIBbQ51V530395GPAEhTr87dC39N78m08mgHvxYXw130_provenance.
- NP3253.RAQBcj9ES9t1ibEhQHqR3dbKrF42uPmGMShn0x5u86ztY130_assertion description "[Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3253.RAQBcj9ES9t1ibEhQHqR3dbKrF42uPmGMShn0x5u86ztY130_provenance.
- NP3254.RAUq7N9pk8JUl_aXLAVJLm9jMmROfuhCi9N2ulpQFqj-o130_assertion description "[Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3254.RAUq7N9pk8JUl_aXLAVJLm9jMmROfuhCi9N2ulpQFqj-o130_provenance.
- NP3255.RAeIG6IUWDy_roJ0ywMovaN5wE6Xfta2CHs7noK-WQsEE130_assertion description "[Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3255.RAeIG6IUWDy_roJ0ywMovaN5wE6Xfta2CHs7noK-WQsEE130_provenance.
- NP3256.RAaaYns10zPxdiSQzzngCC_i5fXPLfpTZuQVSasoBD_34130_assertion description "[A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3256.RAaaYns10zPxdiSQzzngCC_i5fXPLfpTZuQVSasoBD_34130_provenance.
- NP3268.RAevH_7YXrytlH73VvcDZj-qTyCFc-rxRNDLmUFAe73lE130_assertion description "[Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3268.RAevH_7YXrytlH73VvcDZj-qTyCFc-rxRNDLmUFAe73lE130_provenance.
- NP3269.RAd5cnUED1hAWOEBdG_Ti4Y5l9AdnYsGPLM9P_ABTqbs0130_assertion description "[Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3269.RAd5cnUED1hAWOEBdG_Ti4Y5l9AdnYsGPLM9P_ABTqbs0130_provenance.
- NP3271.RAVJbEvZ7Ug6iy0A5tRKKYA1QGdNLMKfRA1eDPTfkNW4k130_assertion description "[Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3271.RAVJbEvZ7Ug6iy0A5tRKKYA1QGdNLMKfRA1eDPTfkNW4k130_provenance.
- NP3273.RAQbSHEOqXSaEIrw1eLzkOp4Rt7-AMjBVjKxPRwrJAOEM130_assertion description "[Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3273.RAQbSHEOqXSaEIrw1eLzkOp4Rt7-AMjBVjKxPRwrJAOEM130_provenance.
- NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_assertion description "[Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3284.RAQkxqOgaHOxuSQnIvyWDBB4WwPI-j868VmjgLi6SOoog130_provenance.
- NP3286.RAeJhz_bx-BOGPZT2DBwnAgBiMwBFw3Tgnua9xqsIicuA130_assertion description "[A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3286.RAeJhz_bx-BOGPZT2DBwnAgBiMwBFw3Tgnua9xqsIicuA130_provenance.
- NP3291.RAVWi0DTbFvBYg7OU4u1T4wEeQomCMuvpCEn4c5-AGItk130_assertion description "[Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3291.RAVWi0DTbFvBYg7OU4u1T4wEeQomCMuvpCEn4c5-AGItk130_provenance.
- NP3294.RAcKu4cdGWjzrDqY2EjWd0OmsDBRM2XKoOZxv9-QKFSb4130_assertion description "[Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3294.RAcKu4cdGWjzrDqY2EjWd0OmsDBRM2XKoOZxv9-QKFSb4130_provenance.
- NP3297.RAZopP2tBqQhkyFBUdvLpib0oHxBuZmgdZokXb5OVA4Y0130_assertion description "[Frequency of mutations of insulin receptor gene in Japanese patients with NIDDM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3297.RAZopP2tBqQhkyFBUdvLpib0oHxBuZmgdZokXb5OVA4Y0130_provenance.
- NP3298.RATzmldPYX7GstUyK9UGpDGu3X8v3-rZCLKIX2ABAjhwg130_assertion description "[Insulin receptor Arg1131-->Gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3298.RATzmldPYX7GstUyK9UGpDGu3X8v3-rZCLKIX2ABAjhwg130_provenance.
- NP3314.RARRgvEF5SNwhurCvxF3wa1YPo_mkRzR-_feIBAhNxgl4130_assertion description "[Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3314.RARRgvEF5SNwhurCvxF3wa1YPo_mkRzR-_feIBAhNxgl4130_provenance.
- NP3316.RAQaPSJv3Q8JkOl9VtDWgRbsyVq3tx8dQ4Sub7DCBh6T4130_assertion description "[Several lines of evidence suggest that the non-conservative amino acid substitutions detected in NIDDM patient #25 D have the potential to affect IRS-1 functions and could play a pathogenic role in this patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3316.RAQaPSJv3Q8JkOl9VtDWgRbsyVq3tx8dQ4Sub7DCBh6T4130_provenance.
- NP3318.RAcVnBAxQkgR1yg2kHxT5doeNd4FP1lfvsY6084SAyG0M130_assertion description "[We report triple heterozygosity in the integrin alpha(IIb) subunit in a 5-year-old Canadian girl with Glanzmann's thrombasthenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3318.RAcVnBAxQkgR1yg2kHxT5doeNd4FP1lfvsY6084SAyG0M130_provenance.
- NP3320.RAZQCUD8t15X6IFXVD9jAzGFC_Qyvnt-mE55SGVPCgUjM130_assertion description "[Type II Glanzmann thrombasthenia in a compound heterozygote for the alpha IIb gene. A novel missense mutation in exon 27.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3320.RAZQCUD8t15X6IFXVD9jAzGFC_Qyvnt-mE55SGVPCgUjM130_provenance.
- NP3321.RAZhDqaMDZO1Jmh5HkEGZiiisMQV48hcmINrqmMEQPQMQ130_assertion description "[A novel Phe171Cys mutation in integrin alpha causes Glanzmann thrombasthenia by abrogating alphabeta complex formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3321.RAZhDqaMDZO1Jmh5HkEGZiiisMQV48hcmINrqmMEQPQMQ130_provenance.
- NP3322.RAfjpOVeFm8sCeg2dcPIpPaZIzi9KJPjkgTJQwSXjJANE130_assertion description "[A naturally occurring Tyr143His alpha IIb mutation abolishes alpha IIb beta 3 function for soluble ligands but retains its ability for mediating cell adhesion and clot retraction: comparison with other mutations causing ligand-binding defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3322.RAfjpOVeFm8sCeg2dcPIpPaZIzi9KJPjkgTJQwSXjJANE130_provenance.
- NP3323.RAX3gr61XyBYRJmBvuYPvQoEarSIQ4zHIywFIUTVdQ5U8130_assertion description "[Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3323.RAX3gr61XyBYRJmBvuYPvQoEarSIQ4zHIywFIUTVdQ5U8130_provenance.
- NP3324.RAalU4Ppj4f7w2brNi9_ju7hgXX0ZRMaGGL6IUv5gCTwg130_assertion description "[Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3324.RAalU4Ppj4f7w2brNi9_ju7hgXX0ZRMaGGL6IUv5gCTwg130_provenance.
- NP3331.RAXZxV2qsxldOCJNqEpcmocDXcRpnc4yX4uEpdcyd7j80130_assertion description "[Identification of two molecular defects in a child with leukocyte adherence deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3331.RAXZxV2qsxldOCJNqEpcmocDXcRpnc4yX4uEpdcyd7j80130_provenance.
- NP3338.RAUOD6p-nkotcHjiDO5gJVwCIVxcQucE7_2aNCNZmcDJ8130_assertion description "[A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3338.RAUOD6p-nkotcHjiDO5gJVwCIVxcQucE7_2aNCNZmcDJ8130_provenance.
- NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_assertion description "[Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3355.RAVB9JDEgNkeMiBTFdZ_Ye8eAvVIhKIToywVQKr4HH128130_provenance.
- NP3360.RAe1gG0B3fxgnVyavwiJzS8GuwrymMOPOz0Lw2eWlnEb8130_assertion description "[Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3360.RAe1gG0B3fxgnVyavwiJzS8GuwrymMOPOz0Lw2eWlnEb8130_provenance.
- NP3368.RAeUsXoLldc-3jbNZtB6aF5RS9PvHghHDY3dH9NNf49bs130_assertion description "[Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3368.RAeUsXoLldc-3jbNZtB6aF5RS9PvHghHDY3dH9NNf49bs130_provenance.
- NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_assertion description "[We have studied a JAG1 missense mutation (JAG1-G274D) that was previously identified in 13 individuals from an extended family with cardiac defects of the type seen in patients with AGS (e.g., peripheral pulmonic stenosis and tetralogy of Fallot) in the absence of liver dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3372.RAfKlHUpbPY1wfZ6DJO1TYqKY_7Mfx6Wz2msgEckqY-3s130_provenance.
- NP3374.RAYHUi3OypjAOHxx3vZJU914Lp8Ut51Eb2nPeCocjcVV8130_assertion description "[The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3374.RAYHUi3OypjAOHxx3vZJU914Lp8Ut51Eb2nPeCocjcVV8130_provenance.
- NP3376.RAVOHOG8edFjo2VBw0SUVhQzoiISRequLIvemmX0qqCTU130_assertion description "[The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3376.RAVOHOG8edFjo2VBw0SUVhQzoiISRequLIvemmX0qqCTU130_provenance.
- NP3379.RAcepxhEkIksC5TyeWXGlVTvUsFSd5hoUJtmljaiBIBBw130_assertion description "[Furthermore, JPH2 gene expression is down-regulated in murine cardiomyopathy models.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3379.RAcepxhEkIksC5TyeWXGlVTvUsFSd5hoUJtmljaiBIBBw130_provenance.
- NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_assertion description "[Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by PCR-based deletion analysis, and by fluorescence in situ hybridization (FISH) analysis, showing six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases and two novel intragenic FGFR1 mutations in two sporadic male cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3383.RAQNLAJcc0ktzF55RiitiLQ6h5rPbndju4VEZWlyFE6Cw130_provenance.
- NP3384.RAb4a6EeDxzpZvDZoXGvUCnZG2YPc7vc80wyEnjNXT_ZI130_assertion description "[The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3384.RAb4a6EeDxzpZvDZoXGvUCnZG2YPc7vc80wyEnjNXT_ZI130_provenance.
- NP3385.RARSeA4ZJEe7hnhY3mb92VqJTBoZ61HL9aJ2RHtbGVCgc130_assertion description "[Kallmann syndrome (KAL) combines hypogonadotropic hypogonadism and anosmia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3385.RARSeA4ZJEe7hnhY3mb92VqJTBoZ61HL9aJ2RHtbGVCgc130_provenance.
- NP3392.RAVWhPF2nlJov773S2RymkBhhA2dWH1ajvvgpJv0BFOR0130_assertion description "[Three novel KCNA1 mutations in episodic ataxia type I families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3392.RAVWhPF2nlJov773S2RymkBhhA2dWH1ajvvgpJv0BFOR0130_provenance.
- NP3396.RAbyI5rb8qpqYPnhuSf_fM4Xd96E9mu4H7ONhHVPu19h4130_assertion description "[Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3396.RAbyI5rb8qpqYPnhuSf_fM4Xd96E9mu4H7ONhHVPu19h4130_provenance.
- NP3399.RActRSYhCXOOB4R0ar4wb14LPnqhqdM128Q532X7ywZkc130_assertion description "[Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3399.RActRSYhCXOOB4R0ar4wb14LPnqhqdM128Q532X7ywZkc130_provenance.
- NP3404.RAZuXuFfxvHQLOba0h6oIT4lr1Hq-0-pYOoXWp6z2Qr6Q130_assertion description "[Mutations in the hminK gene cause long QT syndrome and suppress IKs function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3404.RAZuXuFfxvHQLOba0h6oIT4lr1Hq-0-pYOoXWp6z2Qr6Q130_provenance.
- NP3413.RAWmo1YFVW6FMGL_OPCm-5rfeBQh8YTsjFS288ymbPlSU130_assertion description "[Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3413.RAWmo1YFVW6FMGL_OPCm-5rfeBQh8YTsjFS288ymbPlSU130_provenance.
- NP3416.RATAX0F3nv3hxKK1reTBC6HBF_rzOChsQUTGW3sDbXIHE130_assertion description "[Compound mutations: a common cause of severe long-QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3416.RATAX0F3nv3hxKK1reTBC6HBF_rzOChsQUTGW3sDbXIHE130_provenance.
- NP3417.RAWnQxsizVlqzwbx9NVtWot6wY-UBKH1_E2wOyaKF6mSY130_assertion description "[Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3417.RAWnQxsizVlqzwbx9NVtWot6wY-UBKH1_E2wOyaKF6mSY130_provenance.
- NP3426.RAfRpKzWtixEvKfoQt6jfz50KwJM4ZZskXJ6R8csKcaSk130_assertion description "[Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3426.RAfRpKzWtixEvKfoQt6jfz50KwJM4ZZskXJ6R8csKcaSk130_provenance.
- NP3427.RATIX2pbov-13XN9zO2Zl8xzHBp0qGnL9FNbfGosPEd1I130_assertion description "[Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3427.RATIX2pbov-13XN9zO2Zl8xzHBp0qGnL9FNbfGosPEd1I130_provenance.
- NP3429.RAfrNXXv4DIT4fqI9TeqlbvxMh6oBDIFkRQqEM1ct-M4E130_assertion description "[Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3429.RAfrNXXv4DIT4fqI9TeqlbvxMh6oBDIFkRQqEM1ct-M4E130_provenance.
- NP3430.RARxoXD_r2MdcLl1sl5Eu2j6J1QXGquJr_yeWrum9Id1s130_assertion description "[Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3430.RARxoXD_r2MdcLl1sl5Eu2j6J1QXGquJr_yeWrum9Id1s130_provenance.
- NP3432.RAQXz_bFyHDPqNaDJtSEBtOH1ORa0V3xpyjBpYDEaIO2o130_assertion description "[A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3432.RAQXz_bFyHDPqNaDJtSEBtOH1ORa0V3xpyjBpYDEaIO2o130_provenance.
- NP3439.RAWg6Tp6qFfy4P7EYHTp9S_QgPpoaOckPjlwqHLYZYmSo130_assertion description "[KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3439.RAWg6Tp6qFfy4P7EYHTp9S_QgPpoaOckPjlwqHLYZYmSo130_provenance.
- NP3447.RASSsa_CH6OkLrK2PT5O9x84vVxob9KRToWullWCkNOig130_assertion description "[A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3447.RASSsa_CH6OkLrK2PT5O9x84vVxob9KRToWullWCkNOig130_provenance.
- NP3451.RATR8wkOnXTSDbR4hMAyydOCLJ0q9yS81HiIlHVwc-phs130_assertion description "[Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3451.RATR8wkOnXTSDbR4hMAyydOCLJ0q9yS81HiIlHVwc-phs130_provenance.
- NP3456.RAUZ7aszcf2jdCdUAxNjUsJ4DecNS9IP_OGRACX7QacQM130_assertion description "[Identification of a Kir3.4 mutation in congenital long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3456.RAUZ7aszcf2jdCdUAxNjUsJ4DecNS9IP_OGRACX7QacQM130_provenance.
- NP3462.RAWJs96msvhVXWJkWhYco5MmMu66I83a5G4xaYpBBwaoM130_assertion description "[Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3462.RAWJs96msvhVXWJkWhYco5MmMu66I83a5G4xaYpBBwaoM130_provenance.
- NP3463.RASVuoQF31EThGFPbxhuWxAK7zdeRiJ9O0eL0kui42lss130_assertion description "[Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3463.RASVuoQF31EThGFPbxhuWxAK7zdeRiJ9O0eL0kui42lss130_provenance.
- NP3464.RARbb5FJB8OC7GEzOb55xF8tJHMNLgup40khZ19isEMSs130_assertion description "[The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3464.RARbb5FJB8OC7GEzOb55xF8tJHMNLgup40khZ19isEMSs130_provenance.
- NP3469.RAYHsUhrbQVkd_HPquYFSZ7ZjVZJwWWGUsLEKViWaQTrg130_assertion description "[Congenital long QT syndrome. The value of genetics in prognostic evaluation].]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3469.RAYHsUhrbQVkd_HPquYFSZ7ZjVZJwWWGUsLEKViWaQTrg130_provenance.
- NP3474.RAeOv7-iyDgI9TZCkHJwfYucLU1Wxo-egTYmY-1HPKXUw130_assertion description "[KCNQ1 gain-of-function mutation in familial atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3474.RAeOv7-iyDgI9TZCkHJwfYucLU1Wxo-egTYmY-1HPKXUw130_provenance.
- NP3475.RAULHJzpYlIqUA1tV8BP2Q0-x_OiivX1RVVG7tUN5fyTg130_assertion description "[Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3475.RAULHJzpYlIqUA1tV8BP2Q0-x_OiivX1RVVG7tUN5fyTg130_provenance.
- NP3476.RAXFKPGZP0Jben7WEFai4BeNcO1zRDajyaFYz-hmBzm-A130_assertion description "[Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3476.RAXFKPGZP0Jben7WEFai4BeNcO1zRDajyaFYz-hmBzm-A130_provenance.
- NP3483.RATJG8bvzXc3PKMUWDlcH3hVfZ4KkaKf9xv3DBdZfDSOk130_assertion description "[A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3483.RATJG8bvzXc3PKMUWDlcH3hVfZ4KkaKf9xv3DBdZfDSOk130_provenance.
- NP3486.RAZtaY8tBSJnIw3V3g59e9VvMQ_yucIpmYo_TlmXWXTbs130_assertion description "[Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3486.RAZtaY8tBSJnIw3V3g59e9VvMQ_yucIpmYo_TlmXWXTbs130_provenance.
- NP3490.RAZb6-gNh6-2lAq7JcuPMvhsIBWOrAIsDlg6kFWaWlntM130_assertion description "[Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3490.RAZb6-gNh6-2lAq7JcuPMvhsIBWOrAIsDlg6kFWaWlntM130_provenance.
- NP3495.RAeJJJuJyS-pNoHVBK93p044yB0_skAiWnPl61LMlCOIg130_assertion description "[A novel mutation in JARID1C gene associated with mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3495.RAeJJJuJyS-pNoHVBK93p044yB0_skAiWnPl61LMlCOIg130_provenance.
- NP3497.RAfLPr5GT-m7py9aQzHO_f-Lt1793AiEr1dfUlqua5MPc130_assertion description "[A novel keratocan mutation causing autosomal recessive cornea plana.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3497.RAfLPr5GT-m7py9aQzHO_f-Lt1793AiEr1dfUlqua5MPc130_provenance.
- NP3502.RAUeUZfUQx9dLZH0DDNDFimLcjGbdOOe5Fcc3fae90vCU130_assertion description "[Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3502.RAUeUZfUQx9dLZH0DDNDFimLcjGbdOOe5Fcc3fae90vCU130_provenance.
- NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_assertion description "[Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3507.RAZW54w7CEEu5f5iCYzBPjFo_MOzjQv-IFxUGckZ7qSzc130_provenance.
- NP3510.RAeQNaHA17e_1FRpWYjTGvk9zCbwF3ENbDC-u_StP-QKY130_assertion description "[SPG10 mutations were found in 10% of our complicated forms of HSP, suggesting that mutations in KIF5A represent the major cause of complicated AD-HSP in France.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3510.RAeQNaHA17e_1FRpWYjTGvk9zCbwF3ENbDC-u_StP-QKY130_provenance.
- NP3517.RAUogee02shcGatb_9lF8zNH2ETBlSRBIFjhC_BIFDzmc130_assertion description "[KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3517.RAUogee02shcGatb_9lF8zNH2ETBlSRBIFjhC_BIFDzmc130_provenance.
- NP3531.RAfIBHqjtL2jh6WuYF9jk9Qd4ihM-G4X86uV4wZO7YdQg130_assertion description "[A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3531.RAfIBHqjtL2jh6WuYF9jk9Qd4ihM-G4X86uV4wZO7YdQg130_provenance.
- NP3538.RAXvr1X4Ridm0QKc2xAUDTTQ8qEMkk5CahIRGmCt9bkdI130_assertion description "[Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3538.RAXvr1X4Ridm0QKc2xAUDTTQ8qEMkk5CahIRGmCt9bkdI130_provenance.
- NP3539.RAedTAR1P_vIKsvKHiTDokgKnpRiAC6nCPIruHK5r6zj0130_assertion description "[MLL2 mutation spectrum in 45 patients with Kabuki syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3539.RAedTAR1P_vIKsvKHiTDokgKnpRiAC6nCPIruHK5r6zj0130_provenance.
- NP3541.RAY1dhYUHLx6A1-7iOmoxq_wUarwGrFdUvU7avJM-weVw130_assertion description "[BRAF and KRAS mutations in stomach cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3541.RAY1dhYUHLx6A1-7iOmoxq_wUarwGrFdUvU7avJM-weVw130_provenance.
- NP3543.RAbGegHIWrDe8c0APW7RFJXvxVzPR6b6w0fYBVla0m9jI130_assertion description "[Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3543.RAbGegHIWrDe8c0APW7RFJXvxVzPR6b6w0fYBVla0m9jI130_provenance.
- NP3544.RAUnCJOHT5GcbeF_D-uvknIFPFipzj4VvI5duzmlNTTvk130_assertion description "[Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3544.RAUnCJOHT5GcbeF_D-uvknIFPFipzj4VvI5duzmlNTTvk130_provenance.
- NP3545.RAVqFTrDnanWloYKNKAteXb0OrSv1pO1WEHSdaOanFmqQ130_assertion description "[Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3545.RAVqFTrDnanWloYKNKAteXb0OrSv1pO1WEHSdaOanFmqQ130_provenance.