Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

FSHD2 is a rare form of facioscapulohumeral muscular dystrophy (FSHD) characterized by the absence of a contraction in the D4Z4 macrosatellite repeat region on chromosome 4q35 that is the hallmark of FSHD1. However, hypomethylation of this region is common to both subtypes. Recently, mutations in SM...

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Detalhes bibliográficos
Main Authors: Mitsuhashi, Satomi, Boyden, Steven E, Estrella, Elicia A, Jones, Takako I, Rahimov, Fedik, Yu, Timothy W, Darras, Basil T, Amato, Anthony A, Folkerth, Rebecca D, Jones, Peter L, Kunkel, Louis M, Kang, Peter B
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3851942/
https://ncbi.nlm.nih.gov/pubmed/24128691
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.08.009
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