Article
A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.
Human genetics - 1 Feb 1997
Daimon M, Gojyou E, Sugawara M, Yamatani K, Tominaga M, Sasaki H
Abstract excerpt
Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase. To date, four mutations of the gene have been reported. We report here another mutation in two Japanese families with HCP, which was revealed by analysis of polymerase cha...
Topics
- Adult
- Child
- Coproporphyrinogen Oxidase
- Exons
- Female
- Humans
- Japan
- Male
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Porphyrias, Hepatic