Article
Functional characterization of the LQT2-causing mutation R582C and the associated voltage-dependent fluorescence signal.
Heart rhythm - 1 Aug 2011
Fougere Robert R, Es-Salah-Lamoureux Zeineb, Rezazadeh Saman, Eldstrom Jodene, Fedida David
Abstract excerpt
BACKGROUND: The R582C mutation is one of many Long-QT Syndrome type 2 (LQT2)-causing mutations localized to the human ether-a-go-go related gene (hERG) channel's S5-P linker subdomain, yet its specific mechanism of dysfunction has not been examined. OBJECTIVE: This study sought to characterize the biophysical properties of the congenital LQT2-causing mutation, R582C, and utilize this mutation to provide the first...
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