Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome

Heart Rhythm

Volumn 2, Issue 11, 2005, Pages 1238-1249

  Grunnet, Morten ^a,b,c   Behr, Elijah Raphael ^d   Calloe, Kirstine ^a,c   Hofman Bang, Jacob ^c,e   Till, Jan ^f   Christiansen, Michael ^c,e   McKenna, William John ^g   Olesen, Søren Peter ^a,b   Schmitt, Nicole ^a,c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b NEUROSEARCH A S   (Denmark)

^c Laboratory of Experimental Cardiology   (Denmark)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e STATENS SERUM INSTITUT   (Denmark)

^f ROYAL BROMPTON HOSPITAL   (United Kingdom)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Arrhythmia; Compound mutations; HERG1; KCNH2; KCNQ1; Long QT syndrome; Potassium; Sudden cardiac death

Indexed keywords

GENE PRODUCT; POTASSIUM CHANNEL KCNQ1; PROTEIN KCNH2; PROTEIN KCNQ1; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL;

ADULT; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ELECTRODE; FAMILY STUDY; FEMALE; FUNCTIONAL ASSESSMENT; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; HETEROLOGOUS EXPRESSION; HUMAN; LONG QT SYNDROME; MALE; MUTANT; NONHUMAN; OOCYTE; PHENOTYPE; POTASSIUM CHANNEL KCNH2; PRIORITY JOURNAL; VOLTAGE CLAMP; WILD TYPE; XENOPUS LAEVIS;

ALLELES; DNA; ELECTROPHYSIOLOGY; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEART RATE; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 27744436968     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2005.07.025     Document Type: Article

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