Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease

Adv Exp Med Biol. 1999:466:371-6.
No abstract available

MeSH terms

  • Cloning, Molecular
  • Fibroblasts / enzymology
  • Humans
  • Liver / enzymology*
  • Mixed Function Oxygenases / deficiency*
  • Mixed Function Oxygenases / genetics*
  • Mixed Function Oxygenases / metabolism
  • Open Reading Frames
  • Point Mutation*
  • Recombinant Proteins / metabolism
  • Refsum Disease / enzymology*
  • Refsum Disease / genetics*
  • Restriction Mapping
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Deletion*
  • Skin / enzymology*

Substances

  • Recombinant Proteins
  • Mixed Function Oxygenases
  • PHYH protein, human