BÉBAROVÁ, Markéta, Jan GEELEN, Roel SPÄTJENS, Roselie JONGBLOED, Yvonne ARENS and Paul VOLDERS. K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome. In Physiological Research. 2007. ISSN 0862-8408.
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Basic information
Original name K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome
Name in Czech Mutace K557E v C-konci genu KCNQ1 jako příčina syndromu dlouhého QT intervalu
Authors BÉBAROVÁ, Markéta (203 Czech Republic, guarantor, belonging to the institution), Jan GEELEN (528 Netherlands), Roel SPÄTJENS (528 Netherlands), Roselie JONGBLOED (528 Netherlands), Yvonne ARENS (528 Netherlands) and Paul VOLDERS (528 Netherlands).
Edition Physiological Research, 2007.
Other information
Original language English
Type of outcome Conference abstract
Field of Study 30201 Cardiac and Cardiovascular systems
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 1.505
RIV identification code RIV/00216224:14110/07:00024016
Organization unit Faculty of Medicine
ISSN 0862-8408
Keywords in English long QT syndrome; mutation; patch clamp; cell lines
Tags CELL LINES, long QT syndrome, Mutation, patch clamp
Tags International impact
Changed by Changed by: doc. MUDr. Markéta Bébarová, Ph.D., učo 15000. Changed: 19/1/2013 21:55.
Abstract
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.
Abstract (in Czech)
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.
Links
MSM0021622402, plan (intention)Name: Časná diagnostika a léčba kardiovaskulárních chorob
Investor: Ministry of Education, Youth and Sports of the CR, Early diagnostics and treatment of cardiovascular diseases
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