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PubMed 10226095 Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel. BACKGROUND: The congenital long-QT syndrome (LQTS) is an in 1.72 KB 2015-11-15 5 3
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PubMed 10227459 Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. Bernard-Soulier syndrome (BSS), a rare b 1.51 KB 2015-11-15 5 3
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PubMed 10228154 An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus. Autosomal recessive and dominant nephrogenic diabetes in 1.46 KB 2015-11-15 7 8
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PubMed 10229672 Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling. Fibrillin is the principal structural component of the 10-12 nm diameter elastic microfibrils of the 1.91 KB 2015-11-15 6 3
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PubMed 10231023 A molecular model of a point mutation (Val297Met) in the serine protease domain of protein C. A heterozygous GTG to ATG (Val297Met) mutation was detected in a patient with inherited protein C deficien 1.07 KB 2015-11-15 5 5
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PubMed 10232405 Identification of PTEN mutations in five families with Bannayan-Zonana syndrome. Germline mutations in PTEN, a putative tumor suppressor gene, has been identified in 2 autosomal dominant inherited ham 1.08 KB 2015-11-15 5 5
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PubMed 10233365 A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia. Two siblings of Italian origin with m 1.1 KB 2015-11-15 8 5
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PubMed 10233369 Risk of venous thromboembolism associated with the common hereditary haemochromatosis Hfe gene (C282Y) mutation. A high prevalence of a common mutation in the Hfe gene (C282Y) has recently been report 1.03 KB 2015-11-15 6 6
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PubMed 10233437 A second mutation in the methylenetetrahydrofolate reductase gene and the risk of venous thrombotic disease. We assessed the effect of a recently described mutation in the MTHFR gene (1298 A --> C) on 1.03 KB 2015-11-15 5 6
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PubMed 10233647 A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa. Mutations in the type VII collagen gene, COL7A1, underlie all forms of dystrophic epidermolysi 1.23 KB 2015-11-15 5 3
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