Article
[Analysis of 12 patients with novel mutations of Dystrophin gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2017
Xu Xiaoxin, Liu Yang, Pan Yuchun, Xu Zhiyong, Wang Qin, Xie Jiangsheng
Abstract excerpt
OBJECTIVE: To study the characteristics, location, and amino acid changes of novel mutations of the Dystrophin gene. METHODS: Twelve patients in whom no deletion or duplication of the Dystrophin gene was detected were analyzed with next-generation sequencing. Fifty healthy adult males were recruited as the controls. RESULTS: All patients were detected with mutations of the Dystrophin gene, which included c.33C>G,...
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