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Molecular Mechanisms of Classical Ehlers-Danlos Syndrome

Classical Ehlers-Danlos syndrome (EDS) is a heritable disorder characterized by joint hypermobility, skin hyperextensibility, and abnormal wound healing. The majority of affected individuals have alterations in one of the two type V collagen genes, COL5A1 and COL5A2. The most common mechanism is COL...

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Detalhes bibliográficos
Main Authors: Mitchell, Anna L., Schwarze, Ulrike, Jennings, Jessica F., Byers, Peter H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3827857/
https://ncbi.nlm.nih.gov/pubmed/19370768
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21000
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