New Insight into the Variable Expression of Arrhythmogenic Right Ventricular Cardiomyopathy Provided by the Analysis of a Plakophilin-2 Splice Mutation

New Insight into the Variable Expression of Arrhythmogenic Right Ventricular Cardiomyopathy Provided by the Analysis of a Plakophilin-2 Splice Mutation is …
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scholarly articleQ13442814

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P356DOI10.1159/000345293
P698PubMed publication ID23183494

P50authorPhilippe CharronQ51581875
P2093author name stringE. Gandjbakhch
P2860cites workMissense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?Q57806644
Familial Evaluation in Arrhythmogenic Right Ventricular CardiomyopathyQ57901803
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up studyQ28238424
Arrhythmogenic right ventricular cardiomyopathy plakophilin-2 mutations disrupt desmosome assembly and stabilityQ28248827
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathyQ28266152
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practiceQ28279991
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force CriteriaQ33764619
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathyQ33781552
Desmoglein 2 mutant mice develop cardiac fibrosis and dilation.Q35017328
Clinical and genetic characterization of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy caused by a plakophilin-2 splice mutationQ42676363
Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins.Q43484273
P433issue4
P407language of work or nameEnglishQ1860
P921main subjectarrhythmogenic right ventricular cardiomyopathyQ2555727
P304page(s)216-218
P577publication date2012-01-01
P1433published inCardiologyQ2404578
P1476titleNew Insight into the Variable Expression of Arrhythmogenic Right Ventricular Cardiomyopathy Provided by the Analysis of a Plakophilin-2 Splice Mutation
P478volume123

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