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SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situations result in the incomplete epigenetic repression of the D4Z4-encoded retrog...

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Detalles Bibliográficos
Autores principales: Mason, Amanda G., Slieker, Roderick C., Balog, Judit, Lemmers, Richard J. L. F., Wong, Chao-Jen, Yao, Zizhen, Lim, Jong-Won, Filippova, Galina N., Ne, Enrico, Tawil, Rabi, Heijmans, Bas T., Tapscott, Stephen J., van der Maarel, Silvère M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5461771/
https://www.ncbi.nlm.nih.gov/pubmed/28587678
http://dx.doi.org/10.1186/s13395-017-0129-7