| BÉBAROVÁ, Markéta, RJ JONGBLOED, C TIMMERMANS, YH ARENS, PGA VOLDERS a LM RODRIGUEZ. Four Novel Mutations in Patients with Brugada Syndrome. In The 29th meeting of the European Working Group of Cardiac Cellular Electrophysiology, Antwerp (Belgium), 9. – 11. 9. 2005. 2005. |
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@proceedings{935640,
author = {Bébarová, Markéta and Jongbloed, RJ and Timmermans, C and Arens, YH and Volders, PGA and Rodriguez, LM},
booktitle = {The 29th meeting of the European Working Group of Cardiac Cellular Electrophysiology, Antwerp (Belgium), 9. – 11. 9. 2005},
keywords = {Brugada syndrome; mutation; genetic analysis},
language = {eng},
title = {Four Novel Mutations in Patients with Brugada Syndrome},
year = {2005}
}
TY - CONF
ID - 935640
AU - Bébarová, Markéta - Jongbloed, RJ - Timmermans, C - Arens, YH - Volders, PGA - Rodriguez, LM
PY - 2005
TI - Four Novel Mutations in Patients with Brugada Syndrome
KW - Brugada syndrome
KW - mutation
KW - genetic analysis
N2 - We identified four novel SCN5A mutations in patients with BrS out of eighteen patients tested (22% novel positive identification). A mutation in an untranslated region of the SCN5A gene is recognized, which correlates with a severe clinical phenotype. Thus, our data stress the importance of genetic testing of noncoding regions in BrS.
ER -
BÉBAROVÁ, Markéta, RJ JONGBLOED, C TIMMERMANS, YH ARENS, PGA VOLDERS a LM RODRIGUEZ. Four Novel Mutations in Patients with Brugada Syndrome. In \textit{The 29th meeting of the European Working Group of Cardiac Cellular Electrophysiology, Antwerp (Belgium), 9. – 11. 9. 2005}. 2005.
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