title: Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria.
authors.forename: T-W
authors.initials: TW
authors.lastname: Kang
authors.forename: S-W
authors.initials: SW
authors.lastname: Oh
authors.forename: M-R
authors.initials: MR
authors.lastname: Kim
authors.forename: J S
authors.initials: JS
authors.lastname: Lee
authors.forename: S-C
authors.initials: SC
authors.lastname: Kim
mesh_terms: D000328:Adult; D018388:Codon, Terminator; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017092:Porphyria, Erythropoietic / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D014576:Uroporphyrinogen III Synthetase