Two novel splice site mutations of the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria

J Dermatol. 2010 Dec;37(12):1051-2. doi: 10.1111/j.1346-8138.2010.00928.x.
No abstract available

Publication types

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

MeSH terms

  • Adenosine Deaminase / genetics*
  • Adult
  • Asian People / genetics*
  • Child
  • China
  • DNA Mutational Analysis
  • Female
  • Humans
  • Mutation
  • Pigmentation Disorders / genetics*
  • RNA Splice Sites / genetics
  • RNA-Binding Proteins

Substances

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