Article
[Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree].
Zhonghua xin xue guan bing za zhi - 1 Jul 2014
Zhao Xintao, Wu Yajie, Chen Yi, Feng Xinxing, Song Ying, Wang Yilu, Zou Yubao, Wang Jizheng, Shao Yibing, Hui Rutai, Song Lei, Wang Xu
Abstract excerpt
OBJECTIVE: To identify the casual mutation of a Chinese pedigree with hypertrophic cardiomyopathy (HCM), and to analyze the genotype-phenotype relationship. METHODS: The coding exons of 26 reported disease genes were sequenced by targeted resequencing in the proband and the identified mutation were detected with bi-directional Sanger sequencing in all family members and 307 healthy controls. The...
Topics
- Adolescent
- Asian People
- Base Sequence
- Cardiomyopathy, Hypertrophic
- Death, Sudden, Cardiac
- Exons
- Humans
- Mutation, Missense
- Myosin Heavy Chains
- Pedigree
- Phenotype
- Research Design
- Ventricular Myosins