Article
Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree.
BMC medical genomics - 30 Jul 2021
Zhang Yan, Shang Yiyi, Liu Luo, Ding Xiaoxue, Wu Haiyan, Li Lijiang, Pang Mingjie
Abstract excerpt
BACKGROUND: Inherited hypertrophic cardiomyopathy (HCM) is a common heart muscle disease that damages heart function and may cause the heart to suddenly stop beating. Genetic factors play an important role in HCM. Pedigree analysis is a good way to identify the genetic defects that cause disease. METHODS: An HCM pedigree was determined in Yunnan, China. Whole-exome sequencing was performed to identify the genetic...
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