A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state

Canadian Journal of Cardiology

Volumn 21, Issue 11, 2005, Pages 925-931

  Keller, Dagmar I ^a,b   Barrane, Fatima Zahara ^c   Gouas, Laetitia ^a   Martin, Johannie ^c   Pilote, Sylvie ^c   Suarez, Vivian ^b   Osswald, Stefan ^b   Brink, Marijke ^b   Guicheney, Pascale ^a   Schwick, Nicola ^d   Chahine, Mohamed ^c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c LAVAL UNIVERSITY   (Canada)

^d BERN UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Arrhythmia; Defibrillation; DNA; Ion channels; Sudden death; Ventricular fibrillation

Indexed keywords

CARDIAC SODIUM CHANNEL 5A PROTEIN; CARRIER PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BRUGADA SYNDROME; CASE REPORT; CONFOCAL LASER MICROSCOPY; ELECTROCARDIOGRAPHY; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IMMUNOCYTOCHEMISTRY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATCH CLAMP; PHENOTYPE; PROTEIN EXPRESSION; SODIUM CURRENT; WILD TYPE;

ADOLESCENT; ADULT; AJMALINE; ANTI-ARRHYTHMIA AGENTS; BUNDLE-BRANCH BLOCK; CELL LINE; CODON, NONSENSE; DEATH, SUDDEN, CARDIAC; ELECTROCARDIOGRAPHY; FEMALE; HEART DISEASES; HUMANS; MALE; MICROSCOPY, FLUORESCENCE; MIDDLE AGED; MOLECULAR BIOLOGY; MUSCLE PROTEINS; MUTAGENESIS; PATCH-CLAMP TECHNIQUES; PEDIGREE; PHENOTYPE; SODIUM CHANNELS; SYNDROME; TRANSFECTION;

EID: 27744605427     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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