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@proceedings{712445,
author = {Bébarová, Markéta and Geelen, Jan and Jongbloed, Roselie and Arens, Yvonne and Volders, Paul},
booktitle = {Program and abstracts: 7th meeting New Frontiers in Basic Cardiovascular Research},
keywords = {KCNQ1;long QT syndrome;patch clamp;mutation;electrophysiology},
language = {eng},
title = {Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome},
year = {2006}
}
TY - CONF
ID - 712445
AU - Bébarová, Markéta - Geelen, Jan - Jongbloed, Roselie - Arens, Yvonne - Volders, Paul
PY - 2006
TI - Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome
KW - KCNQ1;long QT syndrome;patch clamp;mutation;electrophysiology
N2 - A de novo mutaton K557E was detected in the C-terminus of KCNQ1 gene, coding the alpha-subunit of IKs channel, in a family with long QT syndrome. We observed a 110 mV shift of the voltage dependence of activation to the right, deceleration of activation and deceleration of deactivation of IKs.
ER -
BÉBAROVÁ, Markéta, Jan GEELEN, Roselie JONGBLOED, Yvonne ARENS a Paul VOLDERS. Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome. In \textit{Program and abstracts: 7th meeting New Frontiers in Basic Cardiovascular Research}. 2006.
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