Article
[Analysis of POMT1 gene mutation in a pedigree affected with congenital muscular dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2018
Chen Chen, Mei Shiyue, Zhu Chaofeng, Ren Yilin, Kong Xiangdong
Abstract excerpt
OBJECTIVE To analyze mutation of POMT1 gene in a Chinese family affected with congenital muscular dystrophy (CMD). METHODS Peripheral blood samples of the family including one affected and two unaffected individuals, in addition with chorionic villous sample from the fetus, were collected. PCR was used to amplify exons 19 and 20 of the POMT1 gene, and the products were sequenced directly. Based on the result of...
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