Article
Identify female carriers and de novo mutations in deletional Duchenne/Becker muscular dystrophy families.
Yi chuan xue bao = Acta genetica Sinica - 1 Mar 2006
Zhu Hai-Yan, Wu Ling-Qian, Liang De-Sheng, Pan Qian, Xia Jia-Hui
Abstract excerpt
By using multiple polymerase reaction (mPCR) and haploid analysis of 11 short tandem repeats (STRs) in dystrophin gene locus to identify female carriers in deletional DMD/BMD (Duchenne/Becker Muscular Dystrophy) families, valuable information can be gathered for prenatal diagnosis. In this article, de novo mutations were detected in two out of the four patients, and one of the four female members was identified...
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