[Distribution characteristics of PKP2 non-synonymous variations in protein domain and genotype-phenotype relationship in patients with arrhythmogenic right ventricular cardiomyopathy].

Abstract excerpt

Objective: Investigate the distribution characteristics of plakophilin 2 (PKP2) variants in the protein structural domains and the relationship between genotypes and phenotypes in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). Methods: By searching the Human Gene Mutation Database, ClinVar, PubMed and Embase databases, all reported PKP2 variants were collected. These variants were...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Arrhythmogenic Right Ventricular Dysplasia
• Share to Genetic Association Studies