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Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is mainly characterized by progressive wasting and weakness of the facial, shoulder, and upper-arm muscles. FSHD is caused by contraction of the macrosatellite repeat D4Z4 on chromosome 4q35. The D4Z4 repeat is very polymorphic in leng...

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Autori principali: Lemmers, Richard J. L. F. , Wohlgemuth, Mariëlle , van der Gaag, Kristiaan J. , van der Vliet, Patrick J. , van Teijlingen, Corrie M. M. , de Knijff, Peter , Padberg, George W. , Frants, Rune R. , van der Maarel, Silvère M. 
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Human Genetics 2007
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2265642/
https://ncbi.nlm.nih.gov/pubmed/17924332
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