A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria

J Invest Dermatol. 2001 May;116(5):821-3. doi: 10.1046/j.1523-1747.2001.01308.x.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence / genetics
  • Flavoproteins
  • Humans
  • Mitochondrial Proteins
  • Molecular Sequence Data
  • Mutation / genetics*
  • Oxidoreductases / genetics*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Pedigree
  • Porphyrias / genetics*
  • Protoporphyrinogen Oxidase

Substances

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