Identification of PEX7 as the second gene involved in Refsum disease

Adv Exp Med Biol. 2003:544:69-70. doi: 10.1007/978-1-4419-9072-3_9.
No abstract available

MeSH terms

  • Humans
  • Mixed Function Oxygenases / genetics
  • Mutation
  • Peroxisomal Targeting Signal 2 Receptor
  • Phenotype
  • Receptors, Cytoplasmic and Nuclear / genetics*
  • Refsum Disease / genetics*
  • Refsum Disease / metabolism

Substances

  • PEX7 protein, human
  • Peroxisomal Targeting Signal 2 Receptor
  • Receptors, Cytoplasmic and Nuclear
  • Mixed Function Oxygenases
  • PHYH protein, human