Article
[Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2012
Liu Min-juan, Xie Min, Mao Jun, Li Hong, Yan Wen-hua, Chen Ying
Abstract excerpt
OBJECTIVE: To detect genetic causes of Duchenne muscular dystrophy (DMD). METHODS: Next-generation sequencing was used to detect 6 DMD patients in whom no exonic deletions were detected by multiplex PCR. Sanger sequencing and multiplex ligation-dependent probe amplification were used to confirm the results. RESULTS: One case was found to have deletions of exons 10 and 11, 1 had exons 16 and 17 duplication, 4...
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