| VOLDERS, Paul, Markéta BÉBAROVÁ, Roselie JONGBLOED, Jan GEELEN, Carl TIMMERMANS, Yvonne ARENS a Luz-Maria RODRIGUEZ. Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome. In Eur Heart J. 2006. ISSN 0195-668X. |
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@proceedings{712470,
author = {Volders, Paul and Bébarová, Markéta and Jongbloed, Roselie and Geelen, Jan and Timmermans, Carl and Arens, Yvonne and Rodriguez, LuzandMaria},
booktitle = {Eur Heart J},
keywords = {SCN5A;Brugada syndrome;electrophysiology;mutation},
language = {eng},
title = {Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome},
year = {2006}
}
TY - CONF
ID - 712470
AU - Volders, Paul - Bébarová, Markéta - Jongbloed, Roselie - Geelen, Jan - Timmermans, Carl - Arens, Yvonne - Rodriguez, Luz-Maria
PY - 2006
TI - Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome
KW - SCN5A;Brugada syndrome;electrophysiology;mutation
N2 - Three new SCN5A mutations were detected in patients with Brugada syndrome, two of them frameshift mutations with complete loss of function and one missense mutation with decreased function and impaired inactivation gating.
ER -
VOLDERS, Paul, Markéta BÉBAROVÁ, Roselie JONGBLOED, Jan GEELEN, Carl TIMMERMANS, Yvonne ARENS a Luz-Maria RODRIGUEZ. Clinical, genetic and biophysical characterization of three novel SCN5A mutations in patients with Brugada syndrome. In \textit{Eur Heart J}. 2006. ISSN~0195-668X.
|
