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Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

PURPOSE: Facioscapulohumeral muscular dystrophy (FSHD) is a common adult muscular dystrophy. Over 95% of FSHD cases are associated with contraction of the D4Z4 tandem repeat (~3.3 kb per unit) at 4q35 with a specific genomic configuration (haplotype) called 4qA. Molecular diagnosis of FSHD typically...

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Detalles Bibliográficos
Autores principales:	Dai, Yi, Li, Pidong, Wang, Zhiqiang, Liang, Fan, Yang, Fan, Fang, Li, Huang, Yu, Huang, Shangzhi, Zhou, Jiapeng, Wang, Depeng, Cui, Liying, Wang, Kai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Methods
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029236/ https://www.ncbi.nlm.nih.gov/pubmed/31506324 http://dx.doi.org/10.1136/jmedgenet-2019-106078

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