A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome

J Invest Dermatol. 2007 Sep;127(9):2273-6. doi: 10.1038/sj.jid.5700860. Epub 2007 May 10.
No abstract available

Publication types

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

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • Epidermis / metabolism
  • Esterases / genetics*
  • Female
  • Granulocytes / metabolism
  • Heterozygote
  • Humans
  • Infant
  • Keratinocytes / metabolism
  • Lipase / genetics*
  • Lipid Metabolism, Inborn Errors / genetics*
  • Mutation*
  • Skin Diseases / genetics*
  • Syndrome
  • Turkey

Substances

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • ABHD5 protein, human
  • Esterases
  • Lipase