Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F19%3A00108531" target="_blank" >RIV/00216224:14110/19:00108531 - isvavai.cz</a>
Result on the web
<a href="https://esc365.escardio.org/Congress/EHRA-2019/Poster-Session-1-43rd-EWGCCE-Meeting/190024-mutation-r591c-associated-with-long-qt-syndrome-type-1-clinical-genetic-and-functional-analysis#abstract" target="_blank" >https://esc365.escardio.org/Congress/EHRA-2019/Poster-Session-1-43rd-EWGCCE-Meeting/190024-mutation-r591c-associated-with-long-qt-syndrome-type-1-clinical-genetic-and-functional-analysis#abstract</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis
Original language description
Inherited arrhythmogenic syndromes are characterized by atypical ECG findings and high occurrence of arrhythmias. These syndromes are associated with mutations in various genes, most often encoding structure of cardiac ion channels. In this study, we focused on complex analysis of a mutation in the KCNQ1 gene associated with long QT syndrome type 1 (LQT1). This gene encodes a-subunit (Kv7.1) of the slowly activating delayed rectifier potassium (IKs) channel.
Czech name
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Czech description
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Project
<a href="/en/project/NV16-30571A" target="_blank" >NV16-30571A: Clinical significance and electrophysiological evaluation of KCNQ1 gene mutation c.926C>T (p.T309I) as a possible long QT syndrome founder mutation</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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