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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational spectrum of Chinese LGMD patients. We performed targeted NGS covering 420 genes in 180 patients who were consecutively suspected of...

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Detalles Bibliográficos
Autores principales:	Yu, Meng, Zheng, Yiming, Jin, Suqin, Gang, Qiang, Wang, Qingqing, Yu, Peng, Lv, He, Zhang, Wei, Yuan, Yun, Wang, Zhaoxia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2017
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389788/ https://www.ncbi.nlm.nih.gov/pubmed/28403181 http://dx.doi.org/10.1371/journal.pone.0175343

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