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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Hlavní autoři: Thomas, N S T, Wiseman, K, Spurlock, G, MacDonald, M, Üstek, D, Upadhyaya, M
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
Letter to JMG
On-line přístup: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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