Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence

Clin Exp Dermatol. 2016 Dec;41(8):953-954. doi: 10.1111/ced.12932.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Child, Preschool
  • Humans
  • Male
  • Mutation*
  • Porphyria, Erythropoietic / genetics*
  • Promoter Regions, Genetic / genetics*
  • Uroporphyrinogen III Synthetase / genetics*

Substances

  • Uroporphyrinogen III Synthetase