Abstract 19352: Utilizing the Genome Aggregation Database, in silico Tools, and Patch Clamp Heterologous Expression Studies to Demote Previously Published Type 1 Long QT Syndrome Mutations From Pathogenic to Benign

Daniel J Clemens, Anne R Lentino,Jamie D Kapplinger,Dan Ye,Wei Zhou,David J Tester,Michael J Ackerman

Circulation（2017）

引用 23|浏览15

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摘要

Introduction: Loss of function mutations in the KCNQ1-encoded Kv7.1 potassium channel cause type 1 long QT syndrome (LQT1). To date, hundreds of unique KCNQ1 missense variants (MSVs) have been publ...

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关键词

Long QT syndrome, Ion channels, Gene mutations

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