CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome

Am J Med Genet A. 2004 Aug 30;129A(2):214. doi: 10.1002/ajmg.a.30228.
No abstract available

Publication types

  • Kommentar
  • Letter

MeSH terms

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase
  • Abnormalities, Multiple / genetics*
  • Esterases / genetics*
  • Esterases / metabolism
  • Genes, Recessive
  • Humans
  • Ichthyosis / genetics
  • Lipase / genetics*
  • Lipase / metabolism
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipid Metabolism, Inborn Errors / physiopathology
  • Mutation / genetics*
  • Syndrome

Substances

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