New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype

Clin Chem. 2001 Jun;47(6):1112-3.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Female
  • Ferrochelatase / genetics*
  • Genotype
  • Humans
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Porphyria, Hepatoerythropoietic / genetics*
  • Statistics as Topic

Substances

  • Ferrochelatase