title: Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.
authors.affiliation: Dermatology Department, University Hospital, Southampton, UK.|St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Fityan
authors.affiliation: St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, London, UK.
authors.forename: H
authors.initials: H
authors.lastname: Fassihi
authors.affiliation: St John's Institute of Dermatology, Guy's and St Thomas' NHS Trust, London, UK.
authors.forename: R
authors.initials: R
authors.lastname: Sarkany
mesh_terms: D017668:Age of Onset; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009154:Mutation; D017092:Porphyria, Erythropoietic / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*
chemical_list: D014576:Uroporphyrinogen III Synthetase