Novel splice-site and frameshift ATP2A2 mutations in Chinese patients with Darier disease

Clin Exp Dermatol. 2012 Aug;37(6):677-9. doi: 10.1111/j.1365-2230.2011.04311.x. Epub 2012 Feb 14.
No abstract available

Publication types

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

MeSH terms

  • Aged
  • Asian People / genetics*
  • Darier Disease / genetics*
  • Female
  • Frameshift Mutation / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • RNA Splice Sites / genetics*
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*

Substances

  • RNA Splice Sites
  • Sarcoplasmic Reticulum Calcium-Transporting ATPases
  • ATP2A2 protein, human