Article
[Heterozygous mutation in KCNQ1 cause Jervell and Lange-Nielsen syndrome].
Zhonghua xin xue guan bing za zhi - 1 Jan 2005
Liu Wen-ling, Hu Da-yi, Li Ping, Li Cui-lan, Qin Xu-guang, Li Yun-tian, Li Lei, Li Zhi-ming, Dong Wei, Qi Yu, Wang Qing
Abstract excerpt
OBJECTIVE: Jervell and Lange-Nielsen syndrome (JLNS) is a severe cardioauditory syndrome manifested as QT interval prolongation, abnormal T waves, and relative bradycardia ventricular tachyarrhythmias. In this report, we screened a nonconsanguineous families with JLNS for mutations in KCNQ1. METHODS: Mutation analysis was performed by using purified PCR products to direct sequence analysis on an ABI-3730XL...
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