Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome

Canadian Journal of Cardiology

Volumn 20, Issue 4, 2004, Pages 425-430

  Baroudi, Ghayath ^a   Napolitano, Carlo ^b   Priori, Silvia G ^b,c   Del Bufalo, Alessandro ^d   Chahine, Mohamed ^a  

^a LAVAL UNIVERSITY   (Canada)

^b IRCCS   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d DIVISION OF CARDIOLOGY   (Switzerland)

Author keywords

Arrhythmia; Brugada syndrome; Genetics; Ion channels; Sudden death; Ventricular fibrillation

Indexed keywords

CARRIER PROTEIN; SCN5A PROTEIN; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL;

ADULT; ARTICLE; BIOPHYSICS; BLOOD SAMPLING; BRUGADA SYNDROME; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HEART RIGHT BUNDLE BRANCH BLOCK; HEART VENTRICLE FIBRILLATION; HUMAN; HUMAN CELL; IN VITRO STUDY; LOW TEMPERATURE PROCEDURES; MALE; MUTATIONAL ANALYSIS; NORTH AMERICA; PATCH CLAMP; PHENOTYPE; RECORDING; REPRODUCIBILITY; SODIUM CURRENT; ST SEGMENT ELEVATION; SUDDEN DEATH; WILD TYPE;

ADULT; BUNDLE-BRANCH BLOCK; CODON, NONSENSE; DEFIBRILLATORS, IMPLANTABLE; ECHOCARDIOGRAPHY; ELECTRIC COUNTERSHOCK; ELECTROCARDIOGRAPHY; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HEART CONDUCTION SYSTEM; HUMANS; MALE; MICROSCOPY, CONFOCAL; MIDDLE AGED; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; PHENOTYPE; SODIUM CHANNELS; STATISTICS; SYNDROME; VENTRICULAR FIBRILLATION;

EID: 2342653026     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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