title: Whole-exome sequencing identifies a novel mutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient.
authors.affiliation: The Second Xiangya Hospital of Central South University, Changsha 410013, China; The State Key Laboratory of Medical Genetics & School of Life Sciences, Central South University, Changsha 410013, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Xiang
authors.affiliation: The State Key Laboratory of Medical Genetics & School of Life Sciences, Central South University, Changsha 410013, China.
authors.forename: Liang-Liang
authors.initials: LL
authors.lastname: Fan
authors.affiliation: The State Key Laboratory of Medical Genetics & School of Life Sciences, Central South University, Changsha 410013, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Huang
authors.affiliation: The Second Xiangya Hospital of Central South University, Changsha 410013, China. Electronic address: zhaosp@medmail.com.cn.
authors.forename: Shui-Ping
authors.initials: SP
authors.lastname: Zhao
authors.affiliation: The Second Xiangya Hospital of Central South University, Changsha 410013, China. Electronic address: aviva9903@csu.edu.cn.
authors.forename: Ya-Qin
authors.initials: YQ
authors.lastname: Chen
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D051301:Desmoglein 2 / Q000235:genetics*; D059472:Exome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: C495314:DSG2 protein, human; D051301:Desmoglein 2
keywords: ARVC; DSG2; Mutation; Whole-exome sequencing