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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.

Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies, joint laxity, droopy skin, umbilical hernia, and blue sclera. Like the animal model dermatosparaxis, EDS type VIIC results from the absence of...

詳細記述

保存先:
書誌詳細
主要な著者: Colige, A, Sieron, A L, Li, S W, Schwarze, U, Petty, E, Wertelecki, W, Wilcox, W, Krakow, D, Cohn, D H, Reardon, W, Byers, P H, Lapière, C M, Prockop, D J, Nusgens, B V
フォーマット: Artigo
言語:Inglês
出版事項: 1999
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377929/
https://ncbi.nlm.nih.gov/pubmed/10417273
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