[Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy].

doi:10.3760/cma.j.issn.1003-9406.2013.01.011

Article

[Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Feb 2013

Wang Wan-jun, Zhu Hai-yan, Zhu Rui-fang, Yang Ying, Zhu Xiang-yu, Duan Hong-lei, Zhang Ying, Wu Xing

Abstract excerpt

OBJECTIVE: To detect potential mutations for probands from families affected with Duchenne/Becker muscular dystrophy (DMD/BMD), and to carry out prenatal diagnosis through identification of female carriers. METHODS: A total of 43 DMD/BMD families were recruited. Multiplex PCR was used to analyze 18 exons within hotspots for DMD gene deletions. Multiplex ligation-dependent probe amplification (MLPA) was used to...

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[Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy].

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[Mutation analysis and prenatal diagnosis of families affected with Duchenne and Becker muscular dystrophy].

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