Article
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.
Molecular biology reports - 1 Jun 2013
Zou Yubao, Wang Jizheng, Liu Xuan, Wang Yilu, Chen Yi, Sun Kai, Gao Shuo, Zhang Channa, Wang Zhimin, Zhang Yin, Feng Xinxing, Song Ying, Wu Yajie, Zhang Hongju, Jia Lei, Wang Hu, Wang Dong, Yan Chaowu, Lu Minjie, Zhou Xianliang, Song Lei, Hui Rutai
Abstract excerpt
Genotype-phenotype correlation of hypertrophic cardiomyopathy (HCM) has been challenging because of the genetic and clinical heterogeneity. To determine the mutation profile of Chinese patients with HCM and to correlate genotypes with phenotypes, we performed a systematic mutation screening of the eight most commonly mutated genes encoding sarcomere proteins in 200 unrelated Chinese adult patients using direct...
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