Article
A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
European journal of human genetics : EJHG - 1 Jan 1996
Fontanellas A, Bensidhoum M, Enriquez de Salamanca R, Moruno Tirado A, de Verneuil H, Ged C
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 activity (UROIIIS). The molecular defects observed in CEP are mainly hete...
Topics
- Adolescent
- Alleles
- Cell Line, Transformed
- Child
- Child, Preschool
- DNA, Complementary
- Exons
- Female
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Porphyria, Erythropoietic
- Uroporphyrinogen III Synthetase