The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria

Int J Hematol. 2010 Dec;92(5):769-71. doi: 10.1007/s12185-010-0725-3. Epub 2010 Dec 4.
No abstract available

Publication types

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

MeSH terms

  • Alleles*
  • Asian People
  • Ferrochelatase / genetics*
  • Ferrochelatase / metabolism*
  • Gene Expression Regulation, Enzymologic*
  • Genetic Association Studies
  • Humans
  • Mutation
  • Protoporphyria, Erythropoietic / enzymology*
  • Protoporphyria, Erythropoietic / genetics*

Substances

  • Ferrochelatase