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A large patient study confirming that facioscapulohumeral muscular dystrophy (FSHD) disease expression is almost exclusively associated with an FSHD locus located on a 4qA‐defined 4qter subtelomere

Facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant disorder, represents the third most common human muscular dystrophy. The FSHD disease locus, at chromosome 4q35, is associated with large contractions of the polymorphic repeat sequence array D4Z4. In addition to FSHD disease assoc...

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Detalhes bibliográficos
Main Authors: Thomas, N S T, Wiseman, K, Spurlock, G, MacDonald, M, Üstek, D, Upadhyaya, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598031/
https://ncbi.nlm.nih.gov/pubmed/16987949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.042804
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