Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutation

Cardiology (Switzerland)

Volumn 123, Issue 3, 2012, Pages 181-189

  Van Der Smagt, Jasper J ^a   Van Der Zwaag, Paul A ^b   Peter Van Tintelen, J ^b,c   Cox, Moniek G P J ^a   Wilde, Arthur A M ^b,d   Van Langen, Irene M ^c   Ummels, Amber ^a   Hennekam, F A M ^a   Dooijes, Dennis ^a   Gerbens, Frans ^c   Bikker, Hennie ^e   Hauer, Richard N W ^a,b   Doevendans, Pieter A ^a,b  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d Heart Failure Research Center and   (Netherlands)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Arrhythmia; Arrhythmogenic right ventricular dysplasia cardiomyopathy; Cardiomyopathy; Desmosome; Genetics

Indexed keywords

MESSENGER RNA; PLAKOPHILIN; PLAKOPHILIN 2; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ADULT; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; DONOR SITE; FEMALE; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; STOP CODON;

ADOLESCENT; ADULT; AGED; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; EXONS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PLAKOPHILINS; RNA SPLICE SITES; YOUNG ADULT;

EID: 84868603726     PISSN: 00086312     EISSN: 14219751     Source Type: Journal    
DOI: 10.1159/000342717     Document Type: Article

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