Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.

Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.

INTRODUCTION: We functionally analyzed a frameshift mutation in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) found in a proband with repeated episodes of ventricular fibrillation who presented bradycardia and paroxysmal atrial fibrillation. Seven relatives also carry the mutation and show...

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Bibliographic Details
Main Authors: Pablo Dolz-Gaitón, Mercedes Núñez, Lucía Núñez, Adriana Barana, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, Marta González de la Fuente, Miguel Alvarez-López, Rosa Macías-Ruiz, Luis Tercedor-Sánchez, Juan Jiménez-Jáimez, Eva Delpón, Ricardo Caballero, Juan Tamargo
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3868464?pdf=render

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http://europepmc.org/articles/PMC3868464?pdf=render

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