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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1999
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377929/
https://ncbi.nlm.nih.gov/pubmed/10417273
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