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 disease in a Japanese family. Analysis of the polymerase chain reaction (PCR) amplified DNA fragments of the gene by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.