About: Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome     Goto   Sponge   NotDistinct   Permalink

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Description
  • 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.
  • 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. (en)
Title
  • Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome
  • Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome (en)
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  • Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome
  • Electrophysiological properties of C-terminal KCNQ1 mutation K557E detected in family with long QT syndrome (en)
skos:notation
  • RIV/00216224:14110/06:00018551!RIV10-MSM-14110___
http://linked.open...avai/riv/aktivita
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  • Z(MSM0021622402)
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  • 473843
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  • RIV/00216224:14110/06:00018551
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  • KCNQ1; long QT syndrome; patch clamp; mutation; electrophysiology (en)
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  • [FAA7B9C8D9BE]
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  • Bébarová, Markéta
  • Arens, Yvonne
  • Geelen, Jan
  • Jongbloed, Roselie
  • Volders, Paul
http://linked.open...n/vavai/riv/zamer
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  • 14110
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