Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy

Heart Rhythm

Volumn 11, Issue 11, 2014, Pages 2010-2017

  Groeneweg, Judith A ^a   Ummels, Amber ^a   Mulder, Marcel ^a   Bikker, Hennie ^b   van der Smagt, Jasper J ^a   van Mil, Anneke M ^c   Homfray, Tessa ^d   Post, Jan G ^a   Elvan, Arif ^e   van der Heijden, Jeroen F ^a   Houweling, Arjan C ^f   Jongbloed, Jan D H ^g   Wilde, Arthur A M ^b   van Tintelen, J Peter ^g,h   Hauer, Richard N ^a   Dooijes, Dennis ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

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

^e St George's Hospital Medical School ^*  (Netherlands)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^g UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^h Durrer Center for Cardiogenetic Research   (Netherlands)

Author keywords

Arrhythmogenic right ventricular dysplasia cardiomyopathy; Desmosomes; Genetics; RNA analysis; Splice site mutations; Ventricular arrhythmias

Indexed keywords

DESMOCOLLIN; DESMOCOLLIN 2; DESMOGLEIN 2; DESMOPLAKIN; MEMBRANE PROTEIN; MESSENGER RNA; PHOSPHOLAMBAN; PLAKOGLOBIN; PLAKOPHILIN; PLAKOPHILIN 2; TRANSMEMBRANE PROTEIN 43; UNCLASSIFIED DRUG; CALCIUM BINDING PROTEIN; DSC2 PROTEIN, HUMAN; DSG2 PROTEIN, HUMAN; DSP PROTEIN, HUMAN; JUP PROTEIN, HUMAN; PKP2 PROTEIN, HUMAN; RNA SPLICING; TMEM43 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGED; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; DESMOSOME; EXON; EXON SKIPPING; FEMALE; FUNCTIONAL ASSESSMENT; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC VARIABILITY; HEART LEFT BUNDLE BRANCH BLOCK; HEART RIGHT VENTRICLE DYSPLASIA; HEART VENTRICLE TACHYCARDIA; HUMAN; HUMAN TISSUE; INTRON; MALE; MIDDLE AGED; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA ISOLATION; RNA SPLICE SITE; RNA SPLICING; YOUNG ADULT; ALGORITHM; ALLELE; BLOOD; CARDIOMYOPATHY; COMPUTER PROGRAM; ELECTROCARDIOGRAPHY; GENETICS; MUTATION; PATHOPHYSIOLOGY; PEDIGREE;

ADOLESCENT; ADULT; AGED; ALGORITHMS; ALLELES; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; CALCIUM-BINDING PROTEINS; CARDIOMYOPATHIES; DESMOCOLLINS; DESMOGLEIN 2; DESMOPLAKINS; ELECTROCARDIOGRAPHY; EXONS; FEMALE; GENETIC VARIATION; HUMANS; INTRONS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PEDIGREE; PLAKOPHILINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA, MESSENGER; SOFTWARE;

EID: 84938700452     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2014.07.041     Document Type: Article

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