Whole-exome sequencing identifies a novel mutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient

Int J Cardiol. 2016 Jul 1:214:1-3. doi: 10.1016/j.ijcard.2016.03.136. Epub 2016 Mar 26.
No abstract available

Keywords: ARVC; DSG2; Mutation; Whole-exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Arrhythmogenic Right Ventricular Dysplasia / genetics*
  • Asian People / genetics*
  • Desmoglein 2 / genetics*
  • Exome
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Mutation*
  • Sequence Analysis, DNA / methods

Substances

  • DSG2 protein, human
  • Desmoglein 2