Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene. The aim of this study is to identify pathogenic DMD variants in probands and reduce the risk of recurrence of the disease in affected families. Variations in 100 unrelated DMD/BMD patients...

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Detalhes bibliográficos
Publicado no:J Zhejiang Univ Sci B
Main Authors: Yang, Yan-mei, Yan, Kai, Liu, Bei, Chen, Min, Wang, Li-ya, Huang, Ying-zhi, Qian, Ye-qing, Sun, Yi-xi, Li, Hong-ge, Dong, Min-yue
Formato: Artigo
Idioma:Inglês
Publicado em: Zhejiang University Press 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6700351/
https://ncbi.nlm.nih.gov/pubmed/31379145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B1800541
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