About: K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome

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About: K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Pattern of the observed biophysical properties (decrease of current density, rightward shift of voltage dependence of activation, deceleration of activation and acceleration of deactivation) is in an agreement with data published in other C-terminal KCNQ1-mutations. Pattern of the observed biophysical properties (decrease of current density, rightward shift of voltage dependence of activation, deceleration of activation and acceleration of deactivation) is in an agreement with data published in other C-terminal KCNQ1-mutations. (en) Charakter pozorovaných biofyzikálních změn (snížení hustoty proudu, posun křivky napěťové závislosti aktivace doprava, zpomalení aktivace a zrychlení deaktivace) odpovídá údajům publikovaným u jiných mutací v C-konci genu KCNQ1. (cs)
Title	K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome (en) Mutace K557E v C-konci genu KCNQ1 jako příčina syndromu dlouhého QT intervalu (cs)
skos:prefLabel	K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome (en) Mutace K557E v C-konci genu KCNQ1 jako příčina syndromu dlouhého QT intervalu (cs)
skos:notation	RIV/00216224:14110/07:00024016!RIV09-MSM-14110___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021622402)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Bébarová, Markéta
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	430311
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/07:00024016
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	long QT syndrome; mutation; patch clamp; cell lines (en)
http://linked.open.../riv/klicoveSlovo	long QT syndrome patch clamp cell lines mutation
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[14B581210599]
http://linked.open...i/riv/nazevZdroje	Physiological Research
http://linked.open...in/vavai/riv/obor	FA
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	56
http://linked.open...iv/tvurceVysledku	Bébarová, Markéta Arens, Yvonne Geelen, Jan Jongbloed, Roselie Volders, Paul Spätjens, Roel
http://linked.open...n/vavai/riv/zamer	Early diagnostics and treatment of cardiovascular diseases
issn	0862-8408
number of pages	1 (xsd:int)
http://localhost/t...ganizacniJednotka	14110

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