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Title: HERG mutation predicts short QT based on channel kinetics but causes long QT by heterotetrameric trafficking deficiency
Authors: Paulussen, ADC * ×
Raes, Adam *
Jongbloed, RJ
Gilissen, RAHJ
Wilde, AAM
Snyders, DJ
Smeets, HJM
Aerssens, J #
Issue Date: Aug-2005
Publisher: Elsevier science bv
Series Title: Cardiovascular Research vol:67 issue:3 pages:467-475
Abstract: Objective: Mutations in the KCNH2 (hERG, human ether-a-go-go related gene) gene may cause a reduction of the delayed rectifier current I-Kr, thereby leading to the long QT syndrome (LQTS). The reduced I-Kr delays the repolarisation of cardiac cells and renders patients vulnerable to ventricular arrhythmias and sudden death. We identified a novel mutation in a LQTS family and investigated its functional consequences using molecular and microscopic techniques.
URI: 
ISSN: 0008-6363
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Biological Psychology
* (joint) first author
× corresponding author
# (joint) last author

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