Article
Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
Human mutation - 1 Apr 2003
D'Amato Mauro, Bonuglia Margherita, Barile Simona, Griso Daniela, Macri Annelisa, Biolcati Gianfranco
Abstract excerpt
Variegate Porphyria (VP) is one of the acute hepatic porphyrias, and is clinically characterised by skin lesions and acute neuropsychiatric/visceral attacks that occur separately or together. The disorder is caused by a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway, and a number of mutations have been described for the corresponding gene (PPOX). Here we...
Topics
- Adult
- Aged
- Child
- DNA Mutational Analysis
- Female
- Flavoproteins
- Humans
- Italy
- Male
- Middle Aged
- Mitochondrial Proteins
- Mutation
- Nuclear Family
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors