Article
Identification of a novel mutation of the CPO gene in a Japanese hereditary coproporphyria family.
American journal of medical genetics - 16 Nov 1998
Susa S, Daimon M, Kondo H, Kondo M, Yamatani K, Sasaki H
Abstract excerpt
Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO) caused by a mutation in the CPO gene. Only 11 mutations of the gene have been reported in HCP patients. We report another mutation in a Japanese family. Polymerase ch...
Topics
- Adult
- Animals
- Codon, Initiator
- Coproporphyrinogen Oxidase
- Female
- Humans
- Japan
- Male
- Mice
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Porphyrias, Hepatic