Article
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.
Journal of cardiovascular electrophysiology - 1 Aug 2009
Zhao Jing Ting, Hill Adam P, Varghese Anthony, Cooper Antony A, Swan Heikki, Laitinen-Forsblom Päivi J, Rees Mark I, Skinner Jonathan R, Campbell Terence J, Vandenberg Jamie I
Abstract excerpt
INTRODUCTION: Mutations in the pore domain of the human ether-a-go-go-related gene (hERG) potassium channel are associated with higher risk of sudden death. However, in many kindreds clinical presentation is variable, making it hard to predict risk. We hypothesized that in vitro phenotyping of th...
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