Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

BACKGROUND: Both forms of facioscapulohumeral muscular dystrophy (FSHD) are associated with aberrant epigenetic regulation of the chromosome 4q35 D4Z4 macrosatellite. Chromatin changes due to large deletions of heterochromatin (FSHD1) or mutations in chromatin regulatory proteins (FSHD2) lead to rel...

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Detalles Bibliográficos
Autores principales: Jones, Takako I, King, Oliver D, Himeda, Charis L, Homma, Sachiko, Chen, Jennifer C J, Beermann, Mary Lou, Yan, Chi, Emerson, Charles P, Miller, Jeffrey B, Wagner, Kathryn R, Jones, Peter L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405830/
https://www.ncbi.nlm.nih.gov/pubmed/25904990
http://dx.doi.org/10.1186/s13148-015-0072-6

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