| BOULET, Inge, Markéta BÉBAROVÁ, Roel SPÄTJENS, Jan GEELEN, Roselie JONGBLOED, Yvonne ARENS, Joep GERAEDTS, Harry CRIJNS a Paul VOLDERS. LQT1 mutation K557E: Clinical and biophysical characteristics including cAMP-mediated regulation. 2009. ISSN 1547-5271. |
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@proceedings{833297,
author = {Boulet, Inge and Bébarová, Markéta and Spätjens, Roel and Geelen, Jan and Jongbloed, Roselie and Arens, Yvonne and Geraedts, Joep and Crijns, Harry and Volders, Paul},
keywords = {long QT syndrome; mutation; patch clamp; cAMP-regulation},
language = {eng},
title = {LQT1 mutation K557E: Clinical and biophysical characteristics including cAMP-mediated regulation},
year = {2009}
}
TY - CONF
ID - 833297
AU - Boulet, Inge - Bébarová, Markéta - Spätjens, Roel - Geelen, Jan - Jongbloed, Roselie - Arens, Yvonne - Geraedts, Joep - Crijns, Harry - Volders, Paul
PY - 2009
TI - LQT1 mutation K557E: Clinical and biophysical characteristics including cAMP-mediated regulation
KW - long QT syndrome
KW - mutation
KW - patch clamp
KW - cAMP-regulation
N2 - The LQT1 mutation K557E causes IKs loss-of-function by altering activation and deactivating kinetics. cAMP-mediated stimulation of mutant IKs is preserved, but incapable of physiological adaptation, explaining long QT intervals in affected patients at baseline and abnormal QT accommodation during exercise.
ER -
BOULET, Inge, Markéta BÉBAROVÁ, Roel SPÄTJENS, Jan GEELEN, Roselie JONGBLOED, Yvonne ARENS, Joep GERAEDTS, Harry CRIJNS a Paul VOLDERS. \textit{LQT1 mutation K557E: Clinical and biophysical characteristics including cAMP-mediated regulation}. 2009. ISSN~1547-5271.
|
