Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Introduction: Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). BM is a relatively mild dominantly inherited disorder with proximal weakness and distal joint contractures. UCMD is an autosomal recess...

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Detalhes bibliográficos
Main Authors: Lampe, A, Dunn, D, von Niederhausern, A C, Hamil, C, Aoyagi, A, Laval, S, Marie, S, Chu, M, Swoboda, K, Muntoni, F, Bonnemann, C, Flanigan, K, Bushby, K, Weiss, R
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736000/
https://ncbi.nlm.nih.gov/pubmed/15689448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.023754
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