Article
[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].
Zhonghua nei ke za zhi - 1 Oct 2007
Li Cui-lan, Hu Da-yi, Liu Wen-ling, Qi Shu-ying, Wang Hong-tao, Li Lei, Gong Qiu-ming, Zhou Zheng-feng
Abstract excerpt
OBJECTIVE: To investigate the molecular pathogenesis for two novel mutations L413P and L559H of KCNH2 found in Chinese patients with long QT syndrome. METHODS: L413P and L559H mutant constructs were generated by site-directed mutagenesis using human wild-type (WT) pcDNA3-HERG cDNA as a template. WT and mutant constructs were transiently transfected into human embryonic kidney 293 cells using lipofectamine method....
Topics
- Amino Acid Substitution
- Blotting, Western
- Cell Line
- Cell Nucleus
- ERG1 Potassium Channel
- Ether-A-Go-Go Potassium Channels
- Green Fluorescent Proteins
- Humans
- Long QT Syndrome
- Membrane Potentials