Article
Identification of two new mutations in congenital erythropoietic porphyria.
European journal of human genetics : EJHG - 1 Jan 1995
Bensidhoum M, Ged C, Hombrados I, Moreau-Gaudry F, Hift R S, Meissner P, Sturrock E D, 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. Six missense mutations in the UROIIIS gene, a deletion...
Topics
- Base Sequence
- Cloning, Molecular
- Codon, Terminator
- DNA, Complementary
- Erythrocytes
- Escherichia coli
- Frameshift Mutation
- Humans
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Porphyria, Erythropoietic
- Porphyrins
- Recombinant Fusion Proteins
- Restriction Mapping
- Uroporphyrinogen III Synthetase