Article
Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Human genetics - 1 Jan 1992
Boulechfar S, Da Silva V, Deybach J C, Nordmann Y, Grandchamp B, de Verneuil H
Abstract excerpt
Congenital erythropoietic porphyria (CEP) or Günther's disease is an inborn error of heme biosynthesis transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase (UROIIIS) activity. We have previously described two missense mutations in the UROIIIS gene, confirming that the primary defect responsible for CEP is a structural alteration of this gene. We...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Deletion
- DNA
- Escherichia coli
- Genetic Vectors
- Humans
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization
- Polymerase Chain Reaction