Mutation analyses of patients with dyschromatosis symmetrica hereditaria: Ten novel mutations of the ADAR1 gene

J Dermatol Sci. 2015 Jul;79(1):88-90. doi: 10.1016/j.jdermsci.2015.04.004. Epub 2015 Apr 28.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Deaminase / genetics*
  • Child
  • Child, Preschool
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Female
  • Frameshift Mutation
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation*
  • Mutation, Missense
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / genetics
  • RNA-Binding Proteins / genetics*

Substances

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

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1