Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria

J Dermatol. 2012 Sep;39(9):819-21. doi: 10.1111/j.1346-8138.2011.01385.x. Epub 2011 Oct 2.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Deaminase / genetics*
  • Alternative Splicing / genetics*
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Frameshift Mutation / genetics*
  • Humans
  • Infant
  • Pigmentation Disorders / congenital*
  • Pigmentation Disorders / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • RNA-Binding Proteins

Substances

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

Supplementary concepts

  • Dyschromatosis symmetrica hereditaria 1