Article
[Study of dystrophin gene non-deletion/duplication mutations causing Becker muscular dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2011
Cao Ji-qing, Zhang Cheng, Feng Shan-wei, Yang Juan, Li Zhi, Zhang Meng, Li Shao-ying, Sun Xiao-fang, Wang Yan-yun, Zheng Ming-ying, Kong Jie
Abstract excerpt
OBJECTIVE: To identify potential mutations in patients featuring Becker muscular dystrophy (BMD) and to enhance the understanding of non-deletion/duplication mutations of the dystrophin gene causing BMD. METHODS: Clinical data of two patients affected with BMD were collected. Potential mutations in the dystrophin gene were screened with multiplex ligation-dependent probe amplification assay (MLPA). Biopsied...
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