BOULET, Inge, Markéta BÉBAROVÁ, Roel SPÄTJENS, Jan GEELEN, Roselie JONGBLOED, Yvonne ARENS, Joep GERAEDTS, Harry CRIJNS and 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 and Paul VOLDERS. \textit{LQT1 mutation K557E: Clinical and biophysical characteristics including cAMP-mediated regulation}. 2009. ISSN~1547-5271.
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