Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population

Circulation

Volumn 112, Issue 17, 2005, Pages 2602-2610

  Brink, Paul A ^a   Crotti, Lia ^b,c   Corfield, Valerie ^a   Goosen, Althea ^a   Durrheim, Glenda ^a   Hedley, Paula ^a   Heradien, Marshall ^a   Geldenhuys, Gerhard ^a   Vanoli, Emilio ^b   Bacchini, Sara ^b   Spazzolini, Carla ^b   Lundquist, Andrew L ^d   Roden, Dan M ^d   George Jr , Alfred L ^d   Schwartz, Peter J ^a,b,c  

^a STELLENBOSCH UNIVERSITY   (South Africa)

^b UNIVERSITY OF PAVIA   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d VANDERBILT UNIVERSITY   (United States)

Author keywords

Arrhythmia; Death, sudden; Genetics; Long QT syndrome; Nervous system, autonomic

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; POTASSIUM CHANNEL KCNQ1;

ADOLESCENT; ADULT; ARTICLE; CHO CELL; DISEASE SEVERITY; FEMALE; FOUNDER EFFECT; GENE MUTATION; HEART RATE; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RISK FACTOR; SOUTH AFRICA;

COHORT STUDIES; FOUNDER EFFECT; HETEROZYGOTE DETECTION; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; VARIATION (GENETICS);

EID: 27444442331     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.105.572453     Document Type: Article

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