Article
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
PloS one - 1 Jan 2014
Chen Chen, Ma Hongwei, Zhang Feng, Chen Lu, Xing Xuesha, Wang Shusen, Zhang Xue, Luo Yang
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a common X-linked recessive disease of muscle degeneration and death. In order to provide accurate and reliable genetic counseling and prenatal diagnosis, we screened DMD mutations in a cohort of 119 Chinese patients using multiplex ligation-dependent probe amplification (MLPA) and denaturing high performance liquid chromatography (DHPLC) followed by Sanger sequencing. In...
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