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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)
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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)
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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)
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skos:notation
| - RIV/65269705:_____/06:#0000025!RIV07-MZ0-65269705
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http://linked.open.../vavai/riv/strany
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/65269705:_____/06:#0000025
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Pacing and Clinical Electrophysiology
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Gaillyová, Renata
- Janoušek, Jan
- Novotný, Tomáš
- Kadlecová, Jitka
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issn
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number of pages
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