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: 9621delT; Cys3207*