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

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,...

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Detalles Bibliográficos
Autores principales: Tang, Feng, Xiao, Yuanyuan, Zhou, Cong, Zhang, Haixia, Wang, Jing, Zeng, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10228078/
https://www.ncbi.nlm.nih.gov/pubmed/37254189
http://dx.doi.org/10.1186/s12920-023-01556-1

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