NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China

Abstract 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 thi...

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Main Authors: Feng Tang (Author), Yuanyuan Xiao (Author), Cong Zhou (Author), Haixia Zhang (Author), Jing Wang (Author), Yang Zeng (Author)
Format: Book
Published: BMC, 2023-05-01T00:00:00Z.
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