Article
A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family.
Cardiology - 1 Jan 2016
Zheng Hua, Huang Huajie, Ji Zhisong, Yang Qi, Yu Qiuxia, Shen Fan, Liu Cuixian, Xiong Fu
Abstract excerpt
OBJECTIVES: To investigate the variations in the TNNI3 gene in a Chinese Han family affected by hypertrophic cardiomyopathy (HCM) and the potential molecular mechanism linking these mutations with disease. METHODS: Peripheral venous blood was acquired from family members, and TNNI3 mutations were identified by DNA sequencing. The pathophysiology of TNNI3 mutations was investigated using bioinformatics,...
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