A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35 but this contraction is pathogenic...

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Pubblicato in:Science
Autori principali: Lemmers, Richard J.L.F., van der Vliet, Patrick J., Klooster, Rinse, Sacconi, Sabrina, Camaño, Pilar, Dauwerse, Johannes G., Snider, Lauren, Straasheijm, Kirsten R., Jan van Ommen, Gert, Padberg, George W., Miller, Daniel G., Tapscott, Stephen J., Tawil, Rabi, Frants, Rune R., van der Maarel, Silvère M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4677822/
https://ncbi.nlm.nih.gov/pubmed/20724583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1189044
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