Article
A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics.
Cardiovascular research - 15 Mar 2003
Groenewegen W Antoinette, Bezzina Connie R, van Tintelen J Peter, Hoorntje Theo M, Mannens Marcel M A M, Wilde Arthur A M, Jongsma Habo J, Rook Martin B
Abstract excerpt
UNLABELLED: The Long QT3 syndrome is associated with mutations in the cardiac sodium channel gene SCN5A. OBJECTIVE: The aim of the present study was the identification and functional characterization of a mutation in a family with the long QT3 syndrome. METHODS: The human cardiac sodium channel gene SCN5A was screened for mutations by single-stranded conformation polymorphism. The functional consequences of...
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