K557E mutation in C-terminus of KCNQ1 gene as a cause of long QT syndrome
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 | |
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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 | |
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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 |
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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) |
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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 | |
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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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