SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene

Circulation

Volumn 114, Issue 5, 2006, Pages 368-376

  Poelzing, Steven ^a   Forleo, Cinzia ^b   Samodell, Melissa ^a   Dudash, Lynn ^a   Sorrentino, Sandro ^b   Anaclerio, Matteo ^b   Troccoli, Rossella ^b   Iacoviello, Massimo ^b   Romito, Roberta ^b   Guida, Pietro ^b   Chahine, Mohamed ^c   Pitzalis, Mariavittoria ^b   Deschênes, Isabelle ^a,d  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF BARI   (Italy)

^c LAVAL UNIVERSITY   (Canada)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

Amino acids; Electrophysiology; Genes; Ion channels; Sodium

Indexed keywords

ARTICLE; BRUGADA SYNDROME; CARDIOVASCULAR RISK; CELL MEMBRANE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; EMBRYO; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENE; GENE EXPRESSION; GENE MUTATION; GENE SCN5A; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SODIUM CURRENT; CASE REPORT; CELL LINE; CHEMISTRY; ELECTROPHYSIOLOGY; FEMALE; GENE EXPRESSION REGULATION; GENETICS; HEART ARRHYTHMIA; IMMUNOHISTOCHEMISTRY; MALE; METABOLISM; MISSENSE MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN DEATH; SYNDROME;

DNA; MUSCLE PROTEIN; PROTEIN; SCN5A PROTEIN, HUMAN; SODIUM CHANNEL;

ARRHYTHMIA; CELL LINE; CELL MEMBRANE; DEATH, SUDDEN, CARDIAC; DNA; ELECTROPHYSIOLOGY; FEMALE; GENE EXPRESSION REGULATION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE PROTEINS; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; RISK FACTORS; SODIUM CHANNELS; SYNDROME;

EID: 33747146463     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.105.601294     Document Type: Article

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