Publications:

Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.

Molecular Genetics & Genomic Medicine

Zhang, Yan Y; Yang, Weikang W; Wen, Guoming G; Wu, Yanxia Y; Jing, Zhiliang Z; Li, Dazhou D; Tang, Minshan M; Liu, Guanglong G; Wei, Xuxuan X; Zhong, Yan Y; Li, Yanhua Y; Deng, Yongjian Y

Publication Date: 2019-05

Variant appearance in text: DMD: 6259A>T; Lys2087*

PubMed Link: 30938079

Variant Present in the following documents:

• Main text
• MGG3-7-e622.pdf

View BVdb publication page