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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1999
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377929/
https://ncbi.nlm.nih.gov/pubmed/10417273
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