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

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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Bibliographic Details
Main Authors: Feng Tang, Yuanyuan Xiao, Cong Zhou, Haixia Zhang, Jing Wang, Yang Zeng
Format: Article
Language:English
Published: BMC 2023-05-01
Series:BMC Medical Genomics
Subjects:
DMD
BMD
Capture
NGS
Genetic counseling
Prenatal diagnosis
Online Access:https://doi.org/10.1186/s12920-023-01556-1

Internet

https://doi.org/10.1186/s12920-023-01556-1

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