About: The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.     Goto   Sponge   NotDistinct   Permalink

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Description
  • In a LQTS patient a homozygous 1893insC mutation of KCNQ1 gene was found. The asymptomatic parents were heterozygous for this mutation. Thus apparently normal individuals may have a latent reduction of repolarizing currents, a “reduced repolarization reserve”, because they are carriers of latent ion channel genes mutations.
  • In a LQTS patient a homozygous 1893insC mutation of KCNQ1 gene was found. The asymptomatic parents were heterozygous for this mutation. Thus apparently normal individuals may have a latent reduction of repolarizing currents, a “reduced repolarization reserve”, because they are carriers of latent ion channel genes mutations. (en)
  • U pacienta s LQT syndromem byla nalezena homozygotní mutace 1893insC genu KCNQ1. Asymptomatičtí rodiče byli heterozygoti pro tuto mutaci. Tedy zjevně zdravý jedinec může mít latentní redukci repolarizačních proudů, „sníženou repolarizační rezervu“, neboť je nositelem latentní mutace genů pro iontové kanály. (cs)
Title
  • The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.
  • The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. (en)
  • Homozygotní mutace genu KCNQ1 asociovaná s recesívním syndromem Romano – Ward (cs)
skos:prefLabel
  • The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.
  • The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome. (en)
  • Homozygotní mutace genu KCNQ1 asociovaná s recesívním syndromem Romano – Ward (cs)
skos:notation
  • RIV/65269705:_____/06:#0000025!RIV07-MZ0-65269705
http://linked.open.../vavai/riv/strany
  • 1013-1015
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(NR8063)
http://linked.open...iv/cisloPeriodika
  • 9
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 478192
http://linked.open...ai/riv/idVysledku
  • RIV/65269705:_____/06:#0000025
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • long QT syndrome (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [AD3FB9E03447]
http://linked.open...i/riv/nazevZdroje
  • Pacing and Clinical Electrophysiology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 29
http://linked.open...iv/tvurceVysledku
  • Gaillyová, Renata
  • Janoušek, Jan
  • Novotný, Tomáš
  • Kadlecová, Jitka
issn
  • 0147-8389
number of pages
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