Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients

Annals of Medicine

Volumn 38, Issue 4, 2006, Pages 294-304

  Fodstad, Heidi ^a   Bendahhou, Saïd ^b   Rougier, Jean Sébastien ^c   Laitinen Forsblom, Päivi J ^a   Barhanin, Jacques ^b   Abriel, Hugues ^c,d   Schild, Laurent ^c   Kontula, Kimmo ^a   Swan, Heikki ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b CNRS   (France)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Compound heterozygous carriers; Founder mutations; Ion channel; Long QT syndrome; Patch clamp

Indexed keywords

POTASSIUM CHANNEL HERG; POTASSIUM CHANNEL KCNQ1;

ADOLESCENT; ADULT; AGED; ANIMAL CELL; ARTICLE; BLOOD DONOR; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DENSITY; EMBRYO; FEMALE; FOUNDER EFFECT; FUNCTIONAL ASSESSMENT; GENE ACTIVATION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC PREDISPOSITION; HEART FUNCTION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; KINETICS; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; MEDICAL DOCUMENTATION; MOLECULAR DYNAMICS; NONHUMAN; PATIENT CODING; PHENOTYPE; POPULATION GENETICS; PREVALENCE; PRIORITY JOURNAL; STATISTICAL ANALYSIS;

ADULT; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; COS CELLS; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; FINLAND; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MEMBRANE POTENTIALS; MUSCLE PROTEINS; MUTATION; SODIUM CHANNELS; TRANSFECTION;

EID: 33744976320     PISSN: 07853890     EISSN: 16512219     Source Type: Journal    
DOI: 10.1080/07853890600756065     Document Type: Article

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