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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