Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. [electronic resource]
Producer: 20000411Description: 371-6 p. digitalISSN:- 0065-2598
- Cloning, Molecular
- Fibroblasts -- enzymology
- Humans
- Liver -- enzymology
- Mixed Function Oxygenases -- deficiency
- Open Reading Frames
- Point Mutation
- Recombinant Proteins -- metabolism
- Refsum Disease -- enzymology
- Restriction Mapping
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Deletion
- Skin -- enzymology
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Publication Type: Journal Article
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