Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing

American Journal of Medical Genetics, Part A

Volumn 152, Issue 3, 2010, Pages 613-621

  Summers, Kim M ^a,b   Bokil, Nilesh J ^b   Lu, Foong Teng ^b   Low, Jiun Tsuen ^b   Baisden, John M ^b   Duffy, David ^c   Radford, Dorothy J ^d  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^d THE PRINCE CHARLES HOSPITAL   (Australia)

Author keywords

Human; KCNQ1 gene; KCNQ1 potassium channel; Long QT syndrome; Romano Ward syndrome

Indexed keywords

AKAP9 PROTEIN; CYCLIC AMP DEPENDENT PROTEIN KINASE ANCHORING PROTEIN; INWARDLY RECTIFYING POTASSIUM CHANNEL; KCND2; KCNJ15; KCNJ6; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNQ1; SHAL POTASSIUM CHANNEL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME 21; CHROMOSOME 7; CLINICAL ARTICLE; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HUMAN; LONG QT SYNDROME; MALE; MICROSATELLITE MARKER; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; AUSTRALIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; INFANT; KCNQ1 POTASSIUM CHANNEL; LINKAGE (GENETICS); LONG QT SYNDROME; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PEDIGREE; YOUNG ADULT;

EID: 77649203152     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33274     Document Type: Article

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