TY  - JOUR
AU  - Dolz-Gaitón, Pablo
AU  - Núñez, Mercedes
AU  - Núñez, Lucía
AU  - Barana, Adriana
AU  - Amorós, Irene
AU  - Matamoros, Marcos
AU  - Pérez-Hernández, Marta
AU  - González de la Fuente, Marta
AU  - Alvarez-López, Miguel
AU  - Macías-Ruiz, Rosa
AU  - Tercedor-Sánchez, Luis
AU  - Jiménez-Jáimez, Juan
AU  - Delpón, Eva
AU  - Caballero, Ricardo
AU  - Tamargo, Juan
PY  - 2013
DO  - 10.1371/journal.pone.0081493
UR  - http://hdl.handle.net/10668/1494
T2  - PloS One
AB  - INTRODUCTIONWe 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....
LA  - en
PB  - Public Library of Science
KW  - Síndrome de Brugada
KW  - Línea Celular Transformada
KW  - Activación del Canal Iónico
KW  - Canal de Sodio Activado por Voltaje NAV1.5
KW  - Humanos
KW  - Arritmias Cardíacas
KW  - Análisis Mutacional de ADN
KW  - Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac::Brugada Syndrome
KW  - Medical Subject Headings::Anatomy::Cells::Cells, Cultured::Cell Line::Cell Line, Transformed
KW  - Medical Subject Headings::Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Ion Channel Gating
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Sodium Channels
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Diseases::Cardiovascular Diseases::Heart Diseases::Arrhythmias, Cardiac
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Voltage-Gated Sodium Channels::NAV1.5 Voltage-Gated Sodium Channel
TI  - 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.
TY  - research article
ER  -