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Clinical application of single‐molecule optical mapping to a multigeneration FSHD1 pedigree

INTRODUCTION: Facioscapulohumeral muscular dystrophy 1 (FSHD1) is a relatively common autosomal dominant adult muscular dystrophy with variable disease penetrance. The disease is caused by shortening of a D4Z4 repeat array located near the telomere of chromosome 4 at 4q35. This causes activation of...

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Detalles Bibliográficos
Autores principales:	Zhang, Qian, Xu, Xueqin, Ding, Lirong, Li, Huanzheng, Xu, Chengyang, Gong, Yuyan, Liu, Ying, Mu, Ting, Leigh, Don, Cram, David S., Tang, Shaohua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418370/ https://www.ncbi.nlm.nih.gov/pubmed/30666819 http://dx.doi.org/10.1002/mgg3.565

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