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@proceedings{1645057,
author = {Synková, Iva and Ostadalova, E. and Valášková, Iveta and Gaillyová, Renata and Novotný, Tomáš and Andršová, Irena and Florianova, A. and Vit, P.},
booktitle = {51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)},
keywords = {long QT syndrome},
language = {eng},
title = {Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results},
url = {https://www.nature.com/articles/s41431-019-0408-3},
year = {2019}
}
TY - CONF
ID - 1645057
AU - Synková, Iva - Ostadalova, E. - Valášková, Iveta - Gaillyová, Renata - Novotný, Tomáš - Andršová, Irena - Florianova, A. - Vit, P.
PY - 2019
TI - Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results
KW - long QT syndrome
UR - https://www.nature.com/articles/s41431-019-0408-3
L2 - https://www.nature.com/articles/s41431-019-0408-3
N2 - Long QT syndrome (LQTS) is a hereditary arrhythmic syndrome characterized by abnormal prolongation of QT interval, increased risk of malignant ventricular arrhythmias and sudden death. With the prevalence 1:2000 it is the most often diagnosed arrhythmogenic disorder. At least 15 LQTS-related genes have been identified so far, nevertheless 75% of mutations are found in 3 major genes (KCNQ1, KCNH2 and SCN5A). Here we report identification of likely pathogenic variants in patient previously investigated with negative results.
ER -
SYNKOVÁ, Iva, E. OSTADALOVA, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Tomáš NOVOTNÝ, Irena ANDRŠOVÁ, A. FLORIANOVA a P. VIT. Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results. In \textit{51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)}. 2019. ISSN~1018-4813.
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