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Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).

Ehlers-Danlos syndrome (EDS) types I and II, which comprise the classical variety, are well characterized from the clinical perspective, but it has been difficult to identify the molecular basis of the disorder in the majority of affected individuals. Several explanations for this failure to detect...

詳細記述

保存先:
書誌詳細
主要な著者: Schwarze, U, Atkinson, M, Hoffman, G G, Greenspan, D S, Byers, P H
フォーマット: Artigo
言語:Inglês
出版事項: 2000
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378060/
https://ncbi.nlm.nih.gov/pubmed/10796876
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