Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP1613.RAz8N1qn1FB3Pe3UCUD_lFzlKHHGcVSlwSiZ6rtNcOFhg130_assertion description "[Identification of cathepsin C mutations in ethnically diverse papillon-Lefvre syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1613.RAz8N1qn1FB3Pe3UCUD_lFzlKHHGcVSlwSiZ6rtNcOFhg130_provenance.
- NP1615.RA37id6pmhYILFmZ1GRQGkpMNhrmXBLixgwN_FTB7wPJQ130_assertion description "[Haim-Munk syndrome and Papillon-Lefvre syndrome are allelic mutations in cathepsin C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1615.RA37id6pmhYILFmZ1GRQGkpMNhrmXBLixgwN_FTB7wPJQ130_provenance.
- NP1617.RAws3lRlp7TOefpHbFlB4qYHuv2eVjoK5PP-NRLL3phdc130_assertion description "[Cathepsin D deficiency is associated with a human neurodegenerative disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1617.RAws3lRlp7TOefpHbFlB4qYHuv2eVjoK5PP-NRLL3phdc130_provenance.
- NP1630.RA56ho8YQxVGdLKWFQi6_NsTa3q-R0Q5bQMOQ_39eN4j4130_assertion description "[Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1630.RA56ho8YQxVGdLKWFQi6_NsTa3q-R0Q5bQMOQ_39eN4j4130_provenance.
- NP1631.RAwlWtf5hpv4K2qJBI4F4lhYAWMyncpUM-TMgA90CWDt4130_assertion description "[Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1631.RAwlWtf5hpv4K2qJBI4F4lhYAWMyncpUM-TMgA90CWDt4130_provenance.
- NP1642.RA2-pqfcvXIU8az7LJBUB07tUlIJvgtmvnJw6W-TYL4Js130_assertion description "[Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1642.RA2-pqfcvXIU8az7LJBUB07tUlIJvgtmvnJw6W-TYL4Js130_provenance.
- NP1644.RA5abFhNirl8we3qcznL2xOFCJrpvN5qui8ONNo_Zk0c0130_assertion description "[Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1644.RA5abFhNirl8we3qcznL2xOFCJrpvN5qui8ONNo_Zk0c0130_provenance.
- NP1651.RAx2Xabhm7U-Edtj0IVP9JeR54bYyun7q1OPJCI-iv_Hc130_assertion description "[A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1651.RAx2Xabhm7U-Edtj0IVP9JeR54bYyun7q1OPJCI-iv_Hc130_provenance.
- NP1657.RAwivp1qzFXLo1YuRACC24sW1Cq0dc3k8uSAh0KOQWi5s130_assertion description "[Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1657.RAwivp1qzFXLo1YuRACC24sW1Cq0dc3k8uSAh0KOQWi5s130_provenance.
- NP1659.RAw5IK2vN4dWJLW1-jhN5rrJwtfh12nV4-cQ-TCZH0IXg130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1659.RAw5IK2vN4dWJLW1-jhN5rrJwtfh12nV4-cQ-TCZH0IXg130_provenance.
- NP1661.RA2UcUGbVnp13OxnaIiQRygvSm8R-h5044XIi39OI7HLM130_assertion description "[The molecular genetic analysis was performed by direct nucleotide sequencing of the CYP11B1 gene in 15 unrelated Tunisian patients suffering from classical 11-hydroxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1661.RA2UcUGbVnp13OxnaIiQRygvSm8R-h5044XIi39OI7HLM130_provenance.
- NP1663.RA8wFghe6sgHdw9-Ta5-Xcpwv7MPbAZRNhUa1BwnvEzP0130_assertion description "[Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1663.RA8wFghe6sgHdw9-Ta5-Xcpwv7MPbAZRNhUa1BwnvEzP0130_provenance.
- NP1664.RAzgSfAaw5RlyIfEaB5D5La_KfXWOkP_FBgSf5VnxeNtI130_assertion description "[Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1664.RAzgSfAaw5RlyIfEaB5D5La_KfXWOkP_FBgSf5VnxeNtI130_provenance.
- NP1676.RA9Soqp0nifNaCVwIjWBy0MM4HIf_M61iAGjTqtg7XRKc130_assertion description "[Effect of testosterone and estradiol in a man with aromatase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1676.RA9Soqp0nifNaCVwIjWBy0MM4HIf_M61iAGjTqtg7XRKc130_provenance.
- NP1678.RA_X4rlWRoK_L4t5y7sr8KGg9B51GWAPvk7G-DOekXgHs130_assertion description "[We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1678.RA_X4rlWRoK_L4t5y7sr8KGg9B51GWAPvk7G-DOekXgHs130_provenance.
- NP1679.RAym0E8A8t9tX9Qo9U9Z4c4sjA6wULWFN5kdwA5x7nFto130_assertion description "[Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1679.RAym0E8A8t9tX9Qo9U9Z4c4sjA6wULWFN5kdwA5x7nFto130_provenance.
- NP1680.RA6vojebB0qi5EqfHemdzliFHtSzNqxtJpBXVPwvOqy54130_assertion description "[Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1680.RA6vojebB0qi5EqfHemdzliFHtSzNqxtJpBXVPwvOqy54130_provenance.
- NP1682.RA0f4LI9RHb-a48bbyHQ1Su-ldApOcDrcY7xebb6WAQow130_assertion description "[Molecular and clinical evaluation of primary congenital glaucoma in Kuwait.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1682.RA0f4LI9RHb-a48bbyHQ1Su-ldApOcDrcY7xebb6WAQow130_provenance.
- NP1683.RAy2oszPq9GzKmyqGVvHCHM4lSLTlPseL4BRIJuojz3kc130_assertion description "[CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1683.RAy2oszPq9GzKmyqGVvHCHM4lSLTlPseL4BRIJuojz3kc130_provenance.
- NP1685.RA4QofJQxXGrKen6K6rxFTRXgTEhlHE9ALpHnEcjwFRlg130_assertion description "[Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1685.RA4QofJQxXGrKen6K6rxFTRXgTEhlHE9ALpHnEcjwFRlg130_provenance.
- NP1687.RAyx9nmbpoWhGl9tZaxjBfLdG6868XZiS1fSYLeppjCTo130_assertion description "[CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1687.RAyx9nmbpoWhGl9tZaxjBfLdG6868XZiS1fSYLeppjCTo130_provenance.
- NP1690.RA3IOHkhf0MphvhGu_4Zlr3PIGV_iVxehS9HHLe_9SjWQ130_assertion description "[Primary role of CYP1B1 in Indian juvenile-onset POAG patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1690.RA3IOHkhf0MphvhGu_4Zlr3PIGV_iVxehS9HHLe_9SjWQ130_provenance.
- NP1691.RAwu8hwwxrmqwk8m3gypVuJh5-oEKYzM1t1zMtJERVcRo130_assertion description "[Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1691.RAwu8hwwxrmqwk8m3gypVuJh5-oEKYzM1t1zMtJERVcRo130_provenance.
- NP1692.RA4NNsfSMNAuc5IOuX1s8e2KgSuEh1us7dZaCtmUTwQzc130_assertion description "[Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1692.RA4NNsfSMNAuc5IOuX1s8e2KgSuEh1us7dZaCtmUTwQzc130_provenance.
- NP1693.RA1B3tIIJNXPp8z69yV8MM3XyaxEr9gBJ0BHMMlCVPQp0130_assertion description "[CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1693.RA1B3tIIJNXPp8z69yV8MM3XyaxEr9gBJ0BHMMlCVPQp0130_provenance.
- NP1694.RA_uVw-0TsvGDvkoPpVUR7tHM0BzoFnhYcD5aTyEQ7XKs130_assertion description "[Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1694.RA_uVw-0TsvGDvkoPpVUR7tHM0BzoFnhYcD5aTyEQ7XKs130_provenance.
- NP1698.RA2gRzV_ys5SFle557T2hV3KxywNbXjhMyvwygAoAgT5Y130_assertion description "[Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1698.RA2gRzV_ys5SFle557T2hV3KxywNbXjhMyvwygAoAgT5Y130_provenance.
- NP1700.RA3Q-Dp0mYu2DGF8p9etYS2w9W_dRhvvv1eTXTA9kiXwE130_assertion description "[Samples from eight patients with nonclassic 21-hydroxylase deficiency who had the haplotype HLA-B14,DR1 contained a hybridizing fragment 3700 base pairs long, indicating the presence of the valine-281 mutation in the CYP21B gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1700.RA3Q-Dp0mYu2DGF8p9etYS2w9W_dRhvvv1eTXTA9kiXwE130_provenance.
- NP1703.RAzpMSXNZWCAKcJdwa296yDKO8_oHY21sA33kwFQIOfrw130_assertion description "[Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1703.RAzpMSXNZWCAKcJdwa296yDKO8_oHY21sA33kwFQIOfrw130_provenance.
- NP1705.RAwbitYeMgWYJM6W0OzpK_zN93oS-UlBxU5OdNWjnBdVk130_assertion description "[Three novel mutations in Japanese patients with 21-hydroxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1705.RAwbitYeMgWYJM6W0OzpK_zN93oS-UlBxU5OdNWjnBdVk130_provenance.
- NP1706.RA0t5LuNp3eWV72dZor7NoP9YRML1m1Qp6N_7QP8GhCUo130_assertion description "[The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia and is a genetic risk factor for the development of symptomatic hypercalcemia that may be triggered by vitamin D prophylaxis in otherwise apparently healthy infants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1706.RA0t5LuNp3eWV72dZor7NoP9YRML1m1Qp6N_7QP8GhCUo130_provenance.
- NP1713.RA19rga3A5xMRB7I9XC9WWC35dnOEKpuiQ8hJxJUVxeZw130_assertion description "[Inactivating mutations in the 25-hydroxyvitamin D3 1alpha-hydroxylase gene are a cause of pseudovitamin D-deficiency rickets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1713.RA19rga3A5xMRB7I9XC9WWC35dnOEKpuiQ8hJxJUVxeZw130_provenance.
- NP1714.RA5YjHD2ZNLLWuhQtOyTuW1Qiv9Zn4LLoDx3igh4Mc5SU130_assertion description "[Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1714.RA5YjHD2ZNLLWuhQtOyTuW1Qiv9Zn4LLoDx3igh4Mc5SU130_provenance.
- NP1717.RAwG-70FOkmMpZQ_Oql4MYUmftYtdBMUtbuY3zxYR9V1M130_assertion description "[Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1717.RAwG-70FOkmMpZQ_Oql4MYUmftYtdBMUtbuY3zxYR9V1M130_provenance.
- NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_assertion description "[The BCD region of chromosome 4q35.1 was refined to an interval flanked centromerically by D4S2924 by linkage and haplotype analysis; mutations were found in the novel CYP450 family member CYP4V2 in 23 of 25 unrelated patients with BCD tested.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1720.RA_4eWrolK2Ifnk95ipLRlzK0O9EWFDvzeRVZJWnUTMb0130_provenance.
- NP1721.RA6YfP-OquzF5mvhWiOKcvgZyMgF8hwymFvieRxjiL9EI130_assertion description "[Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1721.RA6YfP-OquzF5mvhWiOKcvgZyMgF8hwymFvieRxjiL9EI130_provenance.
- NP1727.RA2e8CSVwbE3wwG37QLpbZL42wk1FThekXMGl66ipIjtc130_assertion description "[Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1727.RA2e8CSVwbE3wwG37QLpbZL42wk1FThekXMGl66ipIjtc130_provenance.
- NP1732.RA6Kyolfd4N1PFqB1MomUrGXv57tKeca0V7mUDSLauJT8130_assertion description "[Neurodegeneration mutations in dynactin impair dynein-dependent nuclear migration.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1732.RA6Kyolfd4N1PFqB1MomUrGXv57tKeca0V7mUDSLauJT8130_provenance.
- NP1736.RA-20hNy_cEEGAW_hzfPF3ZmNCz45Uw5ZTF8oA3-dWO_c130_assertion description "[Four double cortex/X-linked lissencephaly families and three sporadic double cortex patients show independent doublecortin mutations, at least one of them a de novo mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1736.RA-20hNy_cEEGAW_hzfPF3ZmNCz45Uw5ZTF8oA3-dWO_c130_provenance.
- NP1740.RA3S7xMNBzcMUBmGs7n7CmbzCI2w-uW5w7470c2o-4Jh0130_assertion description "[Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1740.RA3S7xMNBzcMUBmGs7n7CmbzCI2w-uW5w7470c2o-4Jh0130_provenance.
- NP1751.RA9hX4cjqSfCKZ0qWi9jBuyybX2o8sCd3oaGpwK5Gqzxs130_assertion description "[De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1751.RA9hX4cjqSfCKZ0qWi9jBuyybX2o8sCd3oaGpwK5Gqzxs130_provenance.
- NP1754.RAwk2ydYTFSiWnfOCJJVKFwNzne-abMrJtn02MqVUFllM130_assertion description "[Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1754.RAwk2ydYTFSiWnfOCJJVKFwNzne-abMrJtn02MqVUFllM130_provenance.
- NP1756.RAzcNpUzbF_UfiIXNsUKgsEH0O0WLCK-2IerR1hzTsAjY130_assertion description "[A novel desmin R355P mutation causes cardiac and skeletal myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1756.RAzcNpUzbF_UfiIXNsUKgsEH0O0WLCK-2IerR1hzTsAjY130_provenance.
- NP1758.RA480nxndwtuC03sK3xYZAlyRWSQF3a_AvcWPfrJtRIGE130_assertion description "[Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1758.RA480nxndwtuC03sK3xYZAlyRWSQF3a_AvcWPfrJtRIGE130_provenance.
- NP1760.RA1UO6KExbxN3rJ-kyURki-tH-W9lYuCdCYItyR3D4eeI130_assertion description "[Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1760.RA1UO6KExbxN3rJ-kyURki-tH-W9lYuCdCYItyR3D4eeI130_provenance.
- NP1762.RA2ttqUSnrFD_4G_7pX_EjLmnkCOn7shsQLVQQgYoKZdQ130_assertion description "[Mutations in PJVK, encoding Pejvakin, cause autosomal recessive nonsyndromic hearing loss in humans at the DFNB59 locus on chromosome 2q31.2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1762.RA2ttqUSnrFD_4G_7pX_EjLmnkCOn7shsQLVQQgYoKZdQ130_provenance.
- NP1763.RAyAR_Xph1tDPdECVCgS5cCoWm6wUSAUynP4994bVuvnw130_assertion description "[Mitochondrial DNA depletion and dGK gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1763.RAyAR_Xph1tDPdECVCgS5cCoWm6wUSAUynP4994bVuvnw130_provenance.
- NP1765.RA5zlKGEA4UYEztd-jKFGogQ6s17cN3dQHxkSJ3WLlA_E130_assertion description "[Sequence analysis of DHCR24 in two patients with desmosterolosis revealed four different missense mutations, which were shown, by functional expression, in yeast, of the patient alleles, to be disease causing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1765.RA5zlKGEA4UYEztd-jKFGogQ6s17cN3dQHxkSJ3WLlA_E130_provenance.
- NP1766.RAy2SwQvl9RQjSPpZ9U1CjiLvgX308EEL4fyIC4w0ji4E130_assertion description "[Mutations in the gene for Delta7-sterol reductase (DHCR7), which catalyzes the final step in cholesterol biosynthesis in the endoplasmic reticulum (ER), cause SLOS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1766.RAy2SwQvl9RQjSPpZ9U1CjiLvgX308EEL4fyIC4w0ji4E130_provenance.
- NP1769.RAx1oMMV_yZ573uknrHgTut7MuUyDJRGbTEVIjxCNTp70130_assertion description "[Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1769.RAx1oMMV_yZ573uknrHgTut7MuUyDJRGbTEVIjxCNTp70130_provenance.
- NP1775.RAzrtMWo6zwOFHYC7qd3gxUseRyj0JzTkdJedOiX_j9pc130_assertion description "[Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1775.RAzrtMWo6zwOFHYC7qd3gxUseRyj0JzTkdJedOiX_j9pc130_provenance.
- NP1776.RA4Hct2H9t-kp4ONjhA5vSsQ2xSXqhJkSMHBQJRYPjY1I130_assertion description "[Sanger sequencing confirmed the presence of DHODH mutations in three additional families with Miller syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1776.RA4Hct2H9t-kp4ONjhA5vSsQ2xSXqhJkSMHBQJRYPjY1I130_provenance.
- NP1782.RAwnl5fXqH3wn_yEAVL5XNSIBM0N8Es_4IqkK0Pd7ZkzA130_assertion description "[X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1782.RAwnl5fXqH3wn_yEAVL5XNSIBM0N8Es_4IqkK0Pd7ZkzA130_provenance.
- NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_assertion description "[Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1787.RAzh3O_LEmx8R3GB8EfnhRVjyYwwQ_C3TrPZ_1oBm2lv0130_provenance.
- NP1795.RA_DRWDbJDrBSE1fbDaoeTffV76fCOvTA7ht0XgekCAGE130_assertion description "[Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1795.RA_DRWDbJDrBSE1fbDaoeTffV76fCOvTA7ht0XgekCAGE130_provenance.
- NP1798.RA11NSB6XZRhhoeWNCBfHIHvUWaWmFwJvSdYoEGTPTZoA130_assertion description "[Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1798.RA11NSB6XZRhhoeWNCBfHIHvUWaWmFwJvSdYoEGTPTZoA130_provenance.
- NP1799.RAzNRX4rSDUJHK2EbR2_RFUgKOAt_J1qmk2jf8PRwXV2w130_assertion description "[A muscle biopsy from an X-linked muscular dystrophy pedigree showed normal dystrophin and dystrophin-associated proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1799.RAzNRX4rSDUJHK2EbR2_RFUgKOAt_J1qmk2jf8PRwXV2w130_provenance.
- NP1800.RA_iCOeuV4rOlSkau6ZxMdQdo2P31pMkH4uH7FKmBAHbs130_assertion description "[A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1800.RA_iCOeuV4rOlSkau6ZxMdQdo2P31pMkH4uH7FKmBAHbs130_provenance.
- NP1801.RA3FRnkjmknY4eawHW9hiY8kicrpQ7mYZriwv4rJ_5fSg130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1801.RA3FRnkjmknY4eawHW9hiY8kicrpQ7mYZriwv4rJ_5fSg130_provenance.
- NP1804.RA7dhvsXrDfKj8PpIDDWZroUTEzUn38O65_6gwMDeUAps130_assertion description "[Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1804.RA7dhvsXrDfKj8PpIDDWZroUTEzUn38O65_6gwMDeUAps130_provenance.
- NP1811.RA_Ix2zZzJVQ1_Xo8toRtpszAIu9CaD7Eemulf3dMzMo4130_assertion description "[Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1811.RA_Ix2zZzJVQ1_Xo8toRtpszAIu9CaD7Eemulf3dMzMo4130_provenance.
- NP1813.RAzamJ9jJdxd65_E6MJeqlLP4Hxz1cpw31NR_Tj2KRIW4130_assertion description "[Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1813.RAzamJ9jJdxd65_E6MJeqlLP4Hxz1cpw31NR_Tj2KRIW4130_provenance.
- NP1818.RA69lqrRxTs2ijpEg3tSeZt5KnBGOT5hHO2gjBQqxd-bw130_assertion description "[Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1818.RA69lqrRxTs2ijpEg3tSeZt5KnBGOT5hHO2gjBQqxd-bw130_provenance.
- NP1826.RA-tlRb21sRUU1cgzN1AeTL3dCZCPLC_OoxrKHEHVAqNU130_assertion description "[Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1826.RA-tlRb21sRUU1cgzN1AeTL3dCZCPLC_OoxrKHEHVAqNU130_provenance.
- NP1830.RA4lBLW_4tsqc8E5lNemhVfwSMze-2WihwPCQFEvxlVPs130_assertion description "[The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1830.RA4lBLW_4tsqc8E5lNemhVfwSMze-2WihwPCQFEvxlVPs130_provenance.
- NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_assertion description "[None of the patients with DOK7 mutations had tubular aggregates in the muscle biopsy, implying that 'limb-girdle myasthenia (LGM) with tubular aggregates' previously described in literature may be a pathogenic entity distinct from CMS caused by DOK7 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1831.RAxEMSXfX9gDJ4k5OaG1Ep38TfdJvZjmT1U3pBUEmeSqY130_provenance.
- NP1835.RA-WNisZP7ulXYQcaFW2gVZSoc2uLCj8fWpadm7XCRMws130_assertion description "[Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1835.RA-WNisZP7ulXYQcaFW2gVZSoc2uLCj8fWpadm7XCRMws130_provenance.
- NP1837.RA1HEKWafHP1xxhpMg80MPbyFtzdFgyTABQI4pgwr6BZc130_assertion description "[Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1837.RA1HEKWafHP1xxhpMg80MPbyFtzdFgyTABQI4pgwr6BZc130_provenance.
- NP1839.RAxAUZTyNtfnTTwH5MhhOQq3hZpgktFY2ULZQscJudrhY130_assertion description "[Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1839.RAxAUZTyNtfnTTwH5MhhOQq3hZpgktFY2ULZQscJudrhY130_provenance.
- NP1844.RA3g_5-4MNzfj25HXZN4C_-CazAmX81_sEgu4bhe77fEU130_assertion description "[Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1844.RA3g_5-4MNzfj25HXZN4C_-CazAmX81_sEgu4bhe77fEU130_provenance.
- NP1845.RAyDmCW1nIRJExqPl5GL4sUN0HYr5WagI9anYf8ym4lJI130_assertion description "[Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1845.RAyDmCW1nIRJExqPl5GL4sUN0HYr5WagI9anYf8ym4lJI130_provenance.
- NP1850.RA4wLlBA5szJu9xzeCOIVDKvpTo3KVhesEyXqJQdYV_t4130_assertion description "[Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1850.RA4wLlBA5szJu9xzeCOIVDKvpTo3KVhesEyXqJQdYV_t4130_provenance.
- NP1856.RA0jIcKoMXVGz-wpiIszUIpECB2eEJg2qeOlMWGN1mG-A130_assertion description "[Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1856.RA0jIcKoMXVGz-wpiIszUIpECB2eEJg2qeOlMWGN1mG-A130_provenance.
- NP1858.RA_Y8hQaZ88_xZ9id1eYRc8MDOHykZpKw8DbMB7xs_w3w130_assertion description "[Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1858.RA_Y8hQaZ88_xZ9id1eYRc8MDOHykZpKw8DbMB7xs_w3w130_provenance.
- NP1865.RA-j9PBMBMPhqxm94zyELsPRASNyts4faDB7vGHGiUs_0130_assertion description "[DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1865.RA-j9PBMBMPhqxm94zyELsPRASNyts4faDB7vGHGiUs_0130_provenance.
- NP1871.RA5mQYf01-gWl_PnYd-wOPhBFcO6x9_ii0dpN7UJgwT4Y130_assertion description "[Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1871.RA5mQYf01-gWl_PnYd-wOPhBFcO6x9_ii0dpN7UJgwT4Y130_provenance.
- NP1872.RA3j2qPOuS0A3sDjmbuqGQZ0zn8RmOKVf96LvqHgDOFMI130_assertion description "[Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1872.RA3j2qPOuS0A3sDjmbuqGQZ0zn8RmOKVf96LvqHgDOFMI130_provenance.
- NP1878.RAzEqPt3IMfYBrh4Lj3VbuQyR-DWBR5vk7fGrrwTXNV4E130_assertion description "[Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1878.RAzEqPt3IMfYBrh4Lj3VbuQyR-DWBR5vk7fGrrwTXNV4E130_provenance.
- NP1879.RA8BCJV4DY42f8_BrHAWRLDCyM6ODGPxFgLSCCxOMv85c130_assertion description "[Dysferlin (DYSF) gene mutations cause limb girdle muscular dystrophy type 2B and Miyoshi's myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1879.RA8BCJV4DY42f8_BrHAWRLDCyM6ODGPxFgLSCCxOMv85c130_provenance.
- NP1884.RA3D5Cp_HHXJCGbCVAa7qDHYdlOrfxURYuCiXi02fdcXc130_assertion description "[Phenotypic features and genetic findings in 2 chinese families with Miyoshi distal myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1884.RA3D5Cp_HHXJCGbCVAa7qDHYdlOrfxURYuCiXi02fdcXc130_provenance.
- NP1885.RA4LmUs8q6eZRzh4JSwNrBeHzrVk6HSg-rdsHCE8E_Ros130_assertion description "[Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1885.RA4LmUs8q6eZRzh4JSwNrBeHzrVk6HSg-rdsHCE8E_Ros130_provenance.
- NP1886.RA0NVMjStyteGRJzTu93tgadpZWp-3cixbf7KgxxKTk7w130_assertion description "[Novel dysferlin mutations and characteristic muscle atrophy in late-onset Miyoshi myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1886.RA0NVMjStyteGRJzTu93tgadpZWp-3cixbf7KgxxKTk7w130_provenance.
- NP1888.RAz4_tbHL96MQbNZ743q1OK5r2BdNl_j52vbThj3w6Jhw130_assertion description "[Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hnermann syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1888.RAz4_tbHL96MQbNZ743q1OK5r2BdNl_j52vbThj3w6Jhw130_provenance.
- NP1890.RA_5bEV9NaPb9K8ANLj9Re1J45Ztu-MlQjyeGdcEEgwRI130_assertion description "[We report a case of CDPX2 with a new missense mutation (C-->G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1890.RA_5bEV9NaPb9K8ANLj9Re1J45Ztu-MlQjyeGdcEEgwRI130_provenance.
- NP1895.RA9ffKHBqNuyJ4evQu463obQfqxyLNFwc9YkkuWdc5RO4130_assertion description "[Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1895.RA9ffKHBqNuyJ4evQu463obQfqxyLNFwc9YkkuWdc5RO4130_provenance.
- NP1898.RA4lnXkjlNmmBRM54vTVmlv80KjjEF4tzhN8hIKtW0GL8130_assertion description "[Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1898.RA4lnXkjlNmmBRM54vTVmlv80KjjEF4tzhN8hIKtW0GL8130_provenance.
- NP1899.RA4-VALhpyy1rBFaDPmw-ieFqcWrBzLic1Cq-yEjzdNUs130_assertion description "[Two novel mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1899.RA4-VALhpyy1rBFaDPmw-ieFqcWrBzLic1Cq-yEjzdNUs130_provenance.
- NP1903.RA6mZfm_FhGIepUq70Ebza_Cb1zfLvgEHNWhLBAugocbw130_assertion description "[Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1903.RA6mZfm_FhGIepUq70Ebza_Cb1zfLvgEHNWhLBAugocbw130_provenance.
- NP1904.RA2ck-slTZOWC48O3gxtuEy5guoAf8t2f3N5BzJ_7k0ik130_assertion description "[A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1904.RA2ck-slTZOWC48O3gxtuEy5guoAf8t2f3N5BzJ_7k0ik130_provenance.
- NP1910.RA7rnlKSqixDBtPu_zAhkEV6SVWUHKsjJaq5S2F74fUVo130_assertion description "[A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1910.RA7rnlKSqixDBtPu_zAhkEV6SVWUHKsjJaq5S2F74fUVo130_provenance.
- NP1915.RAyw2UFWHXLMaECR9TGodxtfq9r8EuHj6K8suGPa27J1g130_assertion description "[SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1915.RAyw2UFWHXLMaECR9TGodxtfq9r8EuHj6K8suGPa27J1g130_provenance.
- NP1918.RA9C2l_quV9JAi9xTkVnVf0W9fqmLDiK60gcG02CEXtfk130_assertion description "[We found three SOX10 mutations, one EDNRB and one EDN3 mutations in patients presenting with the classical form of WS4, and two SOX10 mutations in patients displaying chronic intestinal pseudo-obstruction and WS features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1918.RA9C2l_quV9JAi9xTkVnVf0W9fqmLDiK60gcG02CEXtfk130_provenance.
- NP1922.RA0gxoHJvzkvPw5vvV59k2Z9-05CGlPWpKlUy2vcxnWGw130_assertion description "[A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1922.RA0gxoHJvzkvPw5vvV59k2Z9-05CGlPWpKlUy2vcxnWGw130_provenance.
- NP1936.RA_R_AbR4lpbg9gO1juBHYfuz7PQT5Q7dEh72yVFCGb70130_assertion description "[In support of this hypothesis, we have identified one recessive and two dominant missense mutations in EGR2 (within regions encoding conserved functional domains) in patients with congenital hypomyelinating neuropathy (CHN) and a family with Charcot-Marie-Tooth type 1 (CMT1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1936.RA_R_AbR4lpbg9gO1juBHYfuz7PQT5Q7dEh72yVFCGb70130_provenance.
- NP1941.RA2pN12Gd5tX_BzE5uupL-AKWxsNqWK9wgyUUE18hAbKY130_assertion description "[A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1941.RA2pN12Gd5tX_BzE5uupL-AKWxsNqWK9wgyUUE18hAbKY130_provenance.
- NP1943.RA3YS9W6XNwSZ-Paux3z0XqSVc0xSSfG_5Vdknx_h3bKI130_assertion description "[Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1943.RA3YS9W6XNwSZ-Paux3z0XqSVc0xSSfG_5Vdknx_h3bKI130_provenance.
- NP1946.RA5kbg9c0NduWDzevMglKskvSTNnZ8aEZ3lSG9_2pyHXI130_assertion description "[Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1946.RA5kbg9c0NduWDzevMglKskvSTNnZ8aEZ3lSG9_2pyHXI130_provenance.
- NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_assertion description "[In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1947.RA3rP7MGXva6w_W2670nNFsxw70mwWD55v04ZFhL8xEFQ130_provenance.
- NP1956.RA-W06eMhC7zfXP13TY_f17Nd-tLZJhZqc7HtyV480AII130_assertion description "[Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1956.RA-W06eMhC7zfXP13TY_f17Nd-tLZJhZqc7HtyV480AII130_provenance.
- NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion description "[In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_provenance.