Article
Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome.
Journal of cardiovascular electrophysiology - 1 May 2010
Gui Junhong, Wang Tao, Trump Dorothy, Zimmer Thomas, Lei Ming
Abstract excerpt
INTRODUCTION: Mutations in SCN5A, the gene encoding alpha subunit of cardiac type sodium channel, Na(v)1.5, lead to familial sick sinus syndrome (SSS). Although several molecular mechanisms for this genetic condition have been explored, the underlying mechanisms for the variable genotype-phenotype relationships have not been well addressed. One of the important contributors to such relationships is the genetic...
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