Article
Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy.
Cardiology in the young - 1 Apr 2022
Yang Xiaofei, Li Zhenghao, Wang Qingfa, Zhang Yongfa, Zhao Cuifen
Abstract excerpt
OBJECTIVES: This study aims to investigate the pathogenic gene variant in a family with hypertrophic cardiomyopathy by using whole-exome sequencing and to explore the relationship between the gene variant and clinical phenotype. METHODS: Peripheral blood was collected from a family with hypertrophic cardiomyopathy, and deoxyribonucleic acid was extracted. The possible pathogenic genes were detected by whole-exome...
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