Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

Classical Ehlers-Danlos syndrome (EDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, have been shown to underlie this type of EDS. However, to date, mut...

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Hlavní autoři: Nuytinck, Lieve, Freund, Margarida, Lagae, Lieven, Pierard, Gerald E., Hermanns-Le, Trinh, De Paepe, Anne
Médium: Artigo
Jazyk:Inglês
Vydáno: The American Society of Human Genetics 2000
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Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288203/
https://ncbi.nlm.nih.gov/pubmed/10739762
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