Novel ADAR1 mutations including a single amino acid deletion in the deaminase domain underlie dyschromatosis symmetrica hereditaria in Japanese families

Int J Dermatol. 2014 Mar;53(3):e194-6. doi: 10.1111/j.1365-4632.2012.05765.x. Epub 2013 Apr 28.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Deaminase / chemistry
  • Adenosine Deaminase / genetics*
  • Amino Acid Sequence
  • Asian People / genetics*
  • Female
  • Gene Deletion
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / genetics
  • Point Mutation
  • Protein Structure, Tertiary / genetics
  • RNA-Binding Proteins / chemistry
  • RNA-Binding Proteins / genetics*

Substances

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

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1