A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait

Br J Dermatol. 2012 Sep;167(3):697-9. doi: 10.1111/j.1365-2133.2012.10954.x. Epub 2012 Jun 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Mutation / genetics*
  • Porphyria, Erythropoietic / genetics*
  • Uroporphyrins / genetics
  • beta-Thalassemia / genetics*

Substances

  • Uroporphyrins