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

Jansen, G A

Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease. [electronic resource] - Advances in experimental medicine and biology 1999 - 371-6 p. digital

Publication Type: Journal Article

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