| SYNKOVÁ, Iva, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Tomáš NOVOTNÝ, Markéta BÉBAROVÁ, Irena ANDRŠOVÁ, A. FLORIANOVA, Pavel VÍT a R. NAVRATIL. Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant. In 52nd Conference of the European-Society-of-Human-Genetics (ESHG). 2019. ISSN 1018-4813. |
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@proceedings{1604877,
author = {Synková, Iva and Valášková, Iveta and Gaillyová, Renata and Novotný, Tomáš and Bébarová, Markéta and Andršová, Irena and Florianova, A. and Vít, Pavel and Navratil, R.},
booktitle = {52nd Conference of the European-Society-of-Human-Genetics (ESHG)},
keywords = {QT syndrome; C926T-KCNQ1; Molecular analysis},
language = {eng},
title = {Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant},
year = {2019}
}
TY - CONF
ID - 1604877
AU - Synková, Iva - Valášková, Iveta - Gaillyová, Renata - Novotný, Tomáš - Bébarová, Markéta - Andršová, Irena - Florianova, A. - Vít, Pavel - Navratil, R.
PY - 2019
TI - Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant
KW - QT syndrome
KW - C926T-KCNQ1
KW - Molecular analysis
N2 - Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of ventricular arrhythmias, and sudden death. It is the most often diagnosed hereditary arrhythmic disorder with prevalence 1:2000. The KCNQ1 gene is one of the 3 major genes (KCNQ1, KCNH2 and SCN5A) which account for 75 % of the genetically identified LQTS cases. The same KCNQ1 mutation c.926C>T (p.T309I) was identified in 10 putatively unrelated families.
ER -
SYNKOVÁ, Iva, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Tomáš NOVOTNÝ, Markéta BÉBAROVÁ, Irena ANDRŠOVÁ, A. FLORIANOVA, Pavel VÍT a R. NAVRATIL. Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant. In \textit{52nd Conference of the European-Society-of-Human-Genetics (ESHG)}. 2019. ISSN~1018-4813.
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