Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria

Indian J Dermatol Venereol Leprol. 2012 Nov-Dec;78(6):746-8. doi: 10.4103/0378-6323.102375.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Deaminase / genetics*
  • Asian People / genetics*
  • Case-Control Studies
  • China
  • Codon, Nonsense
  • Exons
  • Frameshift Mutation
  • Humans
  • Mutation, Missense
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / genetics
  • Pigmentation Disorders / pathology
  • RNA-Binding Proteins

Substances

  • Codon, Nonsense
  • RNA-Binding Proteins
  • ADARB1 protein, human
  • Adenosine Deaminase

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1