Article
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
The Journal of clinical investigation - 1 Feb 1992
Warner C A, Yoo H W, Roberts A G, Desnick R J
Abstract excerpt
Congenital erythropoietic porphyria (CEP), an inborn error of heme biosynthesis, results from the deficient activity of uroporphyrinogen III synthase (URO-synthase). This autosomal recessive disorder is heterogeneous; patients with severe disease are often transfusion dependent, while milder pati...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Erythropoiesis
- Exons
- Female
- Humans
- Infant
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Porphyrias
- Uroporphyrinogen III Synthetase