| ŠVECOVÁ, Olga, Markéta BÉBAROVÁ, Larisa BAIAZITOVA, Marcela POLICAROVÁ, Jan HOŠEK, Irena ANDRŠOVÁ, Iveta VALÁŠKOVÁ, Iva SYNKOVÁ, Renata GAILLYOVÁ, Pavel VÍT a Tomáš NOVOTNÝ. Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis. In 43rd EWGCCE Meeting. 2019. ISSN 1532-2092. |
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@proceedings{1576723,
author = {Švecová, Olga and Bébarová, Markéta and Baiazitova, Larisa and Policarová, Marcela and Hošek, Jan and Andršová, Irena and Valášková, Iveta and Synková, Iva and Gaillyová, Renata and Vít, Pavel and Novotný, Tomáš},
booktitle = {43rd EWGCCE Meeting},
keywords = {long QT; mutation; KCNQ1; patch clamp},
language = {eng},
title = {Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis},
url = {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},
year = {2019}
}
TY - CONF
ID - 1576723
AU - Švecová, Olga - Bébarová, Markéta - Baiazitova, Larisa - Policarová, Marcela - Hošek, Jan - Andršová, Irena - Valášková, Iveta - Synková, Iva - Gaillyová, Renata - Vít, Pavel - Novotný, Tomáš
PY - 2019
TI - Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis
KW - long QT
KW - mutation
KW - KCNQ1
KW - patch clamp
UR - 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
L2 - 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
N2 - 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.
ER -
ŠVECOVÁ, Olga, Markéta BÉBAROVÁ, Larisa BAIAZITOVA, Marcela POLICAROVÁ, Jan HOŠEK, Irena ANDRŠOVÁ, Iveta VALÁŠKOVÁ, Iva SYNKOVÁ, Renata GAILLYOVÁ, Pavel VÍT a Tomáš NOVOTNÝ. Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis. In \textit{43rd EWGCCE Meeting}. 2019. ISSN~1532-2092.
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