Lv Liu Chan Chen YaLi Li Rong Yu
10.1155/2019/9103860
Biomed Res Int
2019 May 28;2019:9103860.
CC BY
https://pubmed.ncbi.nlm.nih.gov/31275992/
Arrhythmogenic Right Ventricular Dysplasia / genetics Asian People / genetics Exome Sequencing Mutation / genetics
Arrhythmogenic Right Ventricular Dysplasia / genetics Asian People / genetics Exome Sequencing Mutation / genetics Case Reports Amino Acid Sequence Base Sequence Cell Line Connexin 43 / genetics Connexin 43 / metabolism Desmoglein 2 / genetics Desmoglein 2 / metabolism Desmosomes / metabolism Humans Male Young Adult gamma Catenin / chemistry gamma Catenin / genetics Connexin 43 DSG2 protein, human Desmoglein 2 JUP protein, human gamma Catenin
PMC6558630
31275992
Whole-Exome Sequencing Identified a De Novo Mutation of Junction Plakoglobin (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy
2019