A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia

Cardiovascular Research

Volumn 76, Issue 3, 2007, Pages 409-417

  Tan, Bi Hua ^a   Iturralde Torres, Pedro ^b   Medeiros Domingo, Argelia ^c,d,e   Nava, Santiago ^b   Tester, David J ^d,e   Valdivia, Carmen R ^a   Tusié Luna, Teresa ^c   Ackerman, Michael J ^d,e   Makielski, Jonathan C ^a  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b INSTITUTO NACIONAL DE CARDIOLOGÍA IGNACIO CHÁVEZ   (Mexico)

^c INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^d Mayo Clinic   (United States)

^e MAYO GRADUATE SCHOOL   (United States)

Author keywords

Arrhythmia; Conduction disorder; Frame shift mutation; Genetics; Inherited arrhythmia; Nav1.5; SCN5A; Sick sinus syndrome; Sodium current; Ventricular tachycardia

Indexed keywords

PROTEIN SCN5A; SODIUM CHANNEL; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CELL STRAIN HEK293; DENSITY; EMBRYO; EXON; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC VARIABILITY; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE TACHYCARDIA; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PATCH CLAMP; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT DISEASE; SCHOOL CHILD; SICK SINUS SYNDROME; SODIUM CURRENT;

ARRHYTHMIAS, CARDIAC; CHILD; ELECTROCARDIOGRAPHY; FRAMESHIFT MUTATION; HEART CONDUCTION SYSTEM; HUMANS; MALE; MUSCLE PROTEINS; PENETRANCE; PHENOTYPE; SICK SINUS SYNDROME; SODIUM CHANNELS; TACHYCARDIA, VENTRICULAR;

EID: 35548941783     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cardiores.2007.08.006     Document Type: Article

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