Four novel mutations of the ADAR1 gene in dyschromatosis symmetrica hereditaria

J Dermatol Sci. 2009 Jan;53(1):76-7. doi: 10.1016/j.jdermsci.2008.07.011. Epub 2008 Sep 16.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Deaminase / genetics*
  • Codon, Nonsense / genetics*
  • Humans
  • Hyperpigmentation / ethnology
  • Hyperpigmentation / genetics*
  • Hypopigmentation / ethnology
  • Hypopigmentation / genetics*
  • Japan
  • Mutation, Missense / genetics*
  • Pedigree
  • RNA-Binding Proteins

Substances

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

Associated data

  • OMIM/#127400