| BÉBAROVÁ, Markéta, Roselie JONGBLOED, Jan GEELEN, Carl TIMMERMANS, Yvonne ARENS, Paul VOLDERS and Luz-Maria RODRIGUEZ. Functional defect of three novel SCN5A mutations in patients with Brugada syndrome. In Program and abstracts: 7th meeting New Frontiers in Basic Cardiovascular Research. 2006. |
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@proceedings{712446,
author = {Bébarová, Markéta and Jongbloed, Roselie and Geelen, Jan and Timmermans, Carl and Arens, Yvonne and Volders, Paul and Rodriguez, LuzandMaria},
booktitle = {Program and abstracts: 7th meeting New Frontiers in Basic Cardiovascular Research},
keywords = {SCN5A;Brugada syndrome;mutation;electrophysiology},
language = {eng},
title = {Functional defect of three novel SCN5A mutations in patients with Brugada syndrome},
year = {2006}
}
TY - CONF
ID - 712446
AU - Bébarová, Markéta - Jongbloed, Roselie - Geelen, Jan - Timmermans, Carl - Arens, Yvonne - Volders, Paul - Rodriguez, Luz-Maria
PY - 2006
TI - Functional defect of three novel SCN5A mutations in patients with Brugada syndrome
KW - SCN5A;Brugada syndrome;mutation;electrophysiology
N2 - Three new heterozygous mutations were detected in patients with Brugada syndrome in SCN5A gene coding the alpha-subunit of sodium channel, two of them frameshift mutations with complete loss of function and one missense mutation with decreased sodium current and impaired inactivation gating.
ER -
BÉBAROVÁ, Markéta, Roselie JONGBLOED, Jan GEELEN, Carl TIMMERMANS, Yvonne ARENS, Paul VOLDERS and Luz-Maria RODRIGUEZ. Functional defect of three novel SCN5A mutations in patients with Brugada syndrome. In \textit{Program and abstracts: 7th meeting New Frontiers in Basic Cardiovascular Research}. 2006.
|
