Article
[A Novel mutation of F189L in CASQ2 in families with catecholaminergic polymorphic ventricular tachycardia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2008
Liu Qian-qian, Oberti Carlos, Zhang Xian-qin, Ke Tie, Zhang Teng, Scheinman Melvin, Hu Da-yi, Wang Qing Kenneth
Abstract excerpt
OBJECTIVE: To identify mutations and variants in CASQ2 gene in 27 CPVT patients/family members. METHODS: Mutational analysis was performed with direct DNA sequence analysis. The frequency of an identified CASQ2 variant was determined using the Taqman genotyping assay. RESULTS: A novel heterozygous mutation, F189L, in CASQ2 gene was identified in one family with CPVT. This mutation occurred at the evolutionarily,...
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