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Article

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

PloS one - 1 Jan 2017

Yu Meng, Zheng Yiming, Jin Suqin, Gang Qiang, Wang Qingqing, Yu Peng, Lv He, Zhang Wei, Yuan Yun, Wang Zhaoxia

Abstract excerpt

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 LGMDs and underwent muscle biopsies from January 2013 to May 2015. The association between genotype and...

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Identifiers

PMID: 28403181
DOI: 10.1371/journal.pone.0175343
PMCID: PMC5389788

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