Article
Molecular characterization of homozygous variegate porphyria.
Human molecular genetics - 1 Nov 1998
Roberts A G, Puy H, Dailey T A, Morgan R R, Whatley S D, Dailey H A, Martasek P, Nordmann Y, Deybach J C, Elder G H
Abstract excerpt
Variegate porphyria (VP) is a low penetrance, autosomal dominant disorder that results from partial deficiency of protoporphyrinogen oxidase (PPOX) activity caused by mutation in the PPOX gene. The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitizati...
Topics
- Adolescent
- Adult
- Amino Acid Substitution
- DNA
- DNA Mutational Analysis
- Escherichia coli
- Female
- Flavoproteins
- Genetic Complementation Test
- Heteroduplex Analysis
- Homozygote
- Humans
- Male
- Mitochondrial Proteins
- Mutation
- Mutation, Missense
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors