A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome

Heart Rhythm

Volumn 6, Issue 2, 2009, Pages 212-218

  Crotti, Lia ^a,b   Lewandowska, Marzena A ^c   Schwartz, Peter J ^a,b,d,e   Insolia, Roberto ^b   Pedrazzini, Matteo ^b   Bussani, Erica ^c   Dagradi, Federica ^a   George Jr , Alfred L ^f   Pagani, Franco ^c  

^a UNIVERSITY OF PAVIA   (Italy)

^b FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^c INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^d ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^e Hatter Institute for Cardiovascular Research   (South Africa)

^f VANDERBILT UNIVERSITY   (United States)

Author keywords

Arrhythmia; Genetics; Long QT syndrome; Splicing; Sudden death

Indexed keywords

INTRON 9; INTRON G; ION CHANNEL; KCNH2; MESSENGER RNA PRECURSOR; POLYPYRIMIDINE TRACT BINDING PROTEIN; RECOMBINANT ALPHA2B INTERFERON; RECOMBINANT INTERFERON; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BINDING SITE; CLINICAL ARTICLE; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE CLASSIFICATION; DISEASE COURSE; FEMALE; FUNCTIONAL STATUS; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HEART ARRHYTHMIA; HUMAN; HYBRID GENE; IN VITRO STUDY; LONG QT SYNDROME; MOLECULAR HYBRIDIZATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; REGULATORY SEQUENCE; RNA SPLICING;

ADULT; DEATH, SUDDEN, CARDIAC; ETHER-A-GO-GO POTASSIUM CHANNELS; FEMALE; GENETIC SCREENING; GENOTYPE; HUMANS; INTRONS; LOD SCORE; LONG QT SYNDROME; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; RNA SPLICE SITES; RNA SPLICING; TRANSCRIPTION, GENETIC;

EID: 58849146684     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2008.10.044     Document Type: Article

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