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Article

New KCNQ1 mutations leading to haploinsufficiency in a general population1Defective trafficking of a KvLQT1 mutant

13 Apr 2004

Abstract excerpt

OBJECTIVE: KCNQ1 mutations lead to the long QT syndrome (LQTS), characterized by a prolonged QT interval, syncopes and sudden death. However, some mutations are associated with non-penetrant phenotype (no symptoms, QTc normal or borderline). The objective of this study was to determine whether KCNQ1 variants are associated with borderline QTc prolongation in a general population and to evaluate the frequency of...

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Share to Cardiac Arrhythmias and Treatments
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PMID: 15194462
DOI: 10.1016/j.cardiores.2004.02.011

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