Article
Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.
Journal of medical genetics - 1 Mar 1998
Frank J, Lam H, Zaider E, Poh-Fitzpatrick M, Christiano A M
Abstract excerpt
Variegate porphyria (VP) is an autosomal dominant disorder characterised by a partial defect in the activity of protoporphyrinogen oxidase (PPO), and has recently been genetically linked to the PPO gene on chromosome 1q22-23 (Z=6.62). In this study, we identified a mutation in the PPO gene in a p...
Topics
- Adenomatous Polyposis Coli
- Adult
- Amino Acid Sequence
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- DNA Mutational Analysis
- Female
- Flavoproteins
- Gardner Syndrome
- Genes, APC
- Genetic Linkage
- Humans
- Male
- Mice
- Mitochondrial Proteins
- Molecular Sequence Data
- Mutation