Article
Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
Blood - 1 May 1990
Deybach J C, de Verneuil H, Boulechfar S, Grandchamp B, Nordmann Y
Abstract excerpt
Congenital erythropoietic porphyria (Günther's disease) is a rare disorder of heme biosynthesis inherited in an autosomal recessive fashion. The molecular abnormality responsible for the characteristic defect in uroporphyrinogen III synthase activity was investigated in two patients. For the firs...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Child
- Cloning, Molecular
- Codon
- Female
- Genes
- Humans
- Hydro-Lyases
- Infant, Newborn
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Porphyrias
- Uroporphyrinogen III Synthetase