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Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV

Mutations in the COL3A1 gene that encodes the chains of type III procollagen result in the vascular form of Ehlers-Danlos syndrome (EDS), EDS type IV, if they alter the sequence in the triple-helical domain. Although other fibrillar collagen–gene mutations that lead to allele instability or failure...

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Detalhes bibliográficos
Main Authors: Schwarze, Ulrike, Schievink, Wouter I., Petty, Elizabeth, Jaff, Michael R., Babovic-Vuksanovic, Dusica, Cherry, Kenneth J., Pepin, Melanie, Byers, Peter H.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1274375/
https://ncbi.nlm.nih.gov/pubmed/11577371
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