A missense mutation c.G2747A (p.R916Q) of ADAR1 gene in dyschromatosis symmetrica hereditaria is not a novel mutation

Arch Dermatol Res. 2010 Aug;302(6):481-2. doi: 10.1007/s00403-010-1036-5. Epub 2010 Feb 19.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adenosine Deaminase / genetics*
  • DNA Mutational Analysis
  • Databases, Genetic
  • Humans
  • Hyperpigmentation / genetics
  • Mutation / genetics*
  • RNA-Binding Proteins
  • Skin Diseases, Genetic / genetics*
  • Skin Diseases, Genetic / pathology
  • Skin Diseases, Genetic / physiopathology

Substances

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