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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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Main Authors: | , , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
The American Society of Human Genetics
2000
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1288203/ https://ncbi.nlm.nih.gov/pubmed/10739762 |
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