Article
[Study on Duchenne muscular dystrophy gene mutation and prenatal diagnosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2013
Feng Shan-wei, Liang Ying-yin, Cao Ji-qing, Song Xin-ming, Zhang Cheng
Abstract excerpt
OBJECTIVE: To explore the characteristics of DNA mutations underlying Duchenne muscular dystrophy and provide prenatal diagnosis. METHODS: Multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) were applied for analyzing DMD gene mutations in 388 unrelated Chinese patients and 53 fetuses. RESULTS: Respectively, 230 and 43 subjects were found to harbor...
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