Article
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1)
2 Jun 2005
Abstract excerpt
OBJECTIVE: In the hereditary long QT syndromes the commonest defect is in the K+ channel pore forming subunit, KCNQ1. In this study we investigated the role that abnormal KCNQ1 trafficking has in the pathogenesis of the hereditary long QT syndrome (LQT1). METHODS: We introduced nine missense and nonsense mutations occurring in LQT1 into the cDNA encoding KCNQ1 fused in frame to the green fluorescent protein....
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