Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate

Hum Genet. 2007 Nov;122(3-4):417.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Codon / genetics
  • Flavoproteins / genetics*
  • Humans
  • Mitochondrial Proteins / genetics*
  • Mutation, Missense
  • Porphyria, Variegate / enzymology*
  • Porphyria, Variegate / genetics*
  • Protoporphyrinogen Oxidase / genetics*

Substances

  • Codon
  • Flavoproteins
  • Mitochondrial Proteins
  • PPOX protein, human
  • Protoporphyrinogen Oxidase