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New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype

Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a frequently severe disorder characterized by congenital muscle weakness with joint contractures and coexisting distal joint hyperlaxity. Domi...

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Detaylı Bibliyografya
Asıl Yazarlar: Pan, Te-Cheng, Zhang, Rui-Zhu, Sudano, Dominick G., Marie, Suely K., Bönnemann, Carsten G., Chu, Mon-Li
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2003
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180372/
https://ncbi.nlm.nih.gov/pubmed/12840783
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