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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Publicat a:J Zhejiang Univ Sci B
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Zhejiang University Press 2019
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Article
Accés en línia: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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