Functional characteristics of mutations identified in patients with long QT syndrome type 1, T309I and R562S
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F19%3A00108530" target="_blank" >RIV/00216224:14110/19:00108530 - isvavai.cz</a>
Result on the web
<a href="https://esc365.escardio.org/Congress/EHRA-2019/Poster-session-2-43rd-EWGCCE-Meeting/190041-functional-characteristics-of-mutations-identified-in-patients-with-long-qt-syndrome-type-1-t309i-and-r562s#abstract" target="_blank" >https://esc365.escardio.org/Congress/EHRA-2019/Poster-session-2-43rd-EWGCCE-Meeting/190041-functional-characteristics-of-mutations-identified-in-patients-with-long-qt-syndrome-type-1-t309i-and-r562s#abstract</a>
DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Functional characteristics of mutations identified in patients with long QT syndrome type 1, T309I and R562S
Original language description
Long QT syndrome type 1 (LQT1), the most often diagnosed inherited arrhythmogenic syndrome, is associated with mostly heterozygous loss-of-function mutations in the KCNQ1 gene. This gene encodes structure of the alpha-subunit (Kv7.1 protein) of slow delayed rectifier potassium current (IKs), an important repolarizing current, especially during increased sympathetic stimulation.
Czech name
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Czech description
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Classification
Type
O - Miscellaneous
CEP classification
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OECD FORD branch
30201 - Cardiac and Cardiovascular systems
Result continuities
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)
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů