Article
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.
Human molecular genetics - 1 Feb 1995
Lamoril J, Martasek P, Deybach J C, Da Silva V, Grandchamp B, Nordmann Y
Abstract excerpt
Hereditary coproporphyria (HC) is an acute hepatic porphyria with autosomal dominant inheritance caused by a deficient activity of coproporphyrinogen IX oxidase (CPX). We previously described harderoporphyria, a homozygous variant form of coproporphyria in three siblings, characterized by a massive excretion of harderoporphyrin and a marked decrease of coproporphyrinogen IX oxidase activity. In this kindred, the...
Topics
- Amino Acid Sequence
- Base Sequence
- Coproporphyrinogen Oxidase
- DNA, Complementary
- Escherichia coli
- Family Health
- Female
- Gene Expression
- Genetic Variation
- Humans
- Male