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Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing

Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array on the chromosome 4q telomere allowing ectopic expression of the DUX4 gene in skeletal muscle. Genetic analysis is difficult due to t...

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Detalles Bibliográficos
Autores principales:	Butterfield, Russell J, Dunn, Diane M, Duval, Brett, Moldt, Sarah, Weiss, Robert B
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9949141/ https://www.ncbi.nlm.nih.gov/pubmed/36824722 http://dx.doi.org/10.1101/2023.02.17.528868

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