Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria

Clin Biochem. 2000 Aug;33(6):495-500. doi: 10.1016/s0009-9120(00)00142-9.
No abstract available

MeSH terms

  • Adult
  • Amino Acid Sequence
  • DNA / blood
  • DNA, Complementary / analysis
  • Female
  • Flavoproteins
  • Genetic Testing
  • Humans
  • Japan
  • Male
  • Mitochondrial Proteins
  • Molecular Sequence Data
  • Mutation / genetics*
  • Oxidoreductases / chemistry
  • Oxidoreductases / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Porphyrias, Hepatic / genetics*
  • Protoporphyrinogen Oxidase
  • Sequence Alignment

Substances

  • DNA, Complementary
  • Flavoproteins
  • Mitochondrial Proteins
  • DNA
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • PPOX protein, human
  • Protoporphyrinogen Oxidase