Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

Heart Rhythm

Volumn 5, Issue 9, 2008, Pages 1275-1281

  Eddy, Carey Anne ^a,c   MacCormick, Judith M ^a,b   Chung, Seo Kyung ^a,d   Crawford, Jackie R ^a   Love, Donald R ^a,e   Rees, Mark I ^a,d,f   Skinner, Jonathan R ^a,b   Shelling, Andrew N ^a,c  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^c UNIVERSITY OF AUCKLAND   (New Zealand)

^d SWANSEA UNIVERSITY   (United Kingdom)

^e AUCKLAND CITY HOSPITAL   (New Zealand)

^f CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

Arrhythmias; Deletions; Duplications; Long QT syndrome; Multiplex ligation dependant probe amplification

Indexed keywords

ION CHANNEL; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; POTASSIUM CHANNEL SCN5A;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; COLLAPSE; CONTROLLED STUDY; DIAGNOSTIC ERROR; EPILEPSY; EXERCISE; EXON; FEMALE; FLUORESCENCE ANALYSIS; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; HUMAN; LONG QT SYNDROME; MALE; PHENOTYPE; PRIORITY JOURNAL; SIBLING; SUDDEN DEATH;

ADOLESCENT; ADULT; CHILD; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; KCNQ1 POTASSIUM CHANNEL; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PEDIGREE; PILOT PROJECTS; RISK FACTORS; YOUNG ADULT;

EID: 50949093162     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2008.05.033     Document Type: Article

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