A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family.

doi:10.1007/s100380050065

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Article

A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family.

Journal of human genetics - 1 Jan 1998

Susa S, Daimon M, Yamamori I, Kondo M, Yamatani K, Sasaki H, Kato T

Abstract excerpt

Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO). Only 11 mutations of the gene have been reported to date as the mutations responsible for HCP. We report here a novel mutation of the gene responsible for the diseas...

Topics

Coproporphyrinogen Oxidase
Coproporphyrins
Feces
Female
Humans
Japan
Male
Mutation
Polymorphism, Single-Stranded Conformational
Porphyrias, Hepatic

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