Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient

J Invest Dermatol. 2000 Dec;115(6):1156. doi: 10.1046/j.1523-1747.2000.0202a.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Homozygote
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation
  • Porphyria, Erythropoietic* / genetics
  • Uroporphyrinogen III Synthetase / genetics

Substances

  • Uroporphyrinogen III Synthetase