Article
Variegate porphyria: identification of a nonsense mutation in the protoporphyrinogen oxidase gene.
The Journal of investigative dermatology - 1 Apr 1998
Frank J, Jugert F K, Kalka K, Goerz G, Merk H F, Christiano A M
Abstract excerpt
The porphyrias are disorders of porphyrin metabolism that result from inherited or acquired aberrations in the control of the heme biosynthetic pathway. Variegate porphyria is characterized by a partial reduction in the activity of protoporphyrinogen oxidase. In this study, we identified the firs...
Topics
- Adult
- Amino Acid Sequence
- Female
- Flavoproteins
- Humans
- Male
- Mitochondrial Proteins
- Molecular Sequence Data
- Mutation
- Nucleic Acid Heteroduplexes
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Pedigree
- Porphyrias
- Protoporphyrinogen Oxidase