Article
[Mutations in beta myosin heavy chain gene: two mutations in Chinese with familial hypertrophic cardiomyopathy and the correlation between the genotype and phenotype].
Zhonghua yi xue za zhi - 2 Oct 2004
Xie Wen-li, Liu Wen-ling, Hu Da-yi, Cui We, Zhu Tian-gang, Li Cui-lan, Sun Yi-hong, Li Lei, Li Tian-chang, Bian Hong, Tong Qi-guang
Abstract excerpt
OBJECTIVE: To study the disease-causing gene mutation in Chinese with hypertrophic cardiomyopathy (HCM), and to analyze the correlation between the genotype and phenotype. METHODS: Samples of peripheral blood were collected from five Chinese patients with HCM in whose families at least 2 HCM patients existed. The exon in the functional regions of the beta myosin heavy chain gene (beta-MHC) were amplified with PCR...
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