Article
NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.
BMC medical genomics - 30 May 2023
Tang Feng, Xiao Yuanyuan, Zhou Cong, Zhang Haixia, Wang Jing, Zeng Yang
Abstract excerpt
BACKGROUND: At present, Multiplex ligation-dependent probe amplification (MLPA) and exome sequencing are common gene detection methods in patients with Duchenne muscular dystrophy or Becker muscular dystrophy (DMD/BMD), but they can not cover the whole-genome sequence of the DMD gene. In this study, the whole genome capture of the DMD gene and next-generation sequencing (NGS) technology were used to detect the...
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