Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA

J Inherit Metab Dis. 1998 Jun;21(3):288-91. doi: 10.1023/a:1005388710197.

Authors

G A Jansen¹, S Ferdinandusse, O H Skjeldal, O Stokke, C J de Groot, C Jakobs, R J Wanders

Affiliation

¹ University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, The Netherlands.

PMID: 9686377
DOI: 10.1023/a:1005388710197

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Substitution
Cells, Cultured
DNA, Complementary
Fibroblasts
Humans
Mixed Function Oxygenases / genetics*
Mutation*
Refsum Disease / enzymology*
Refsum Disease / genetics
Sequence Analysis, DNA

Substances

DNA, Complementary
Mixed Function Oxygenases
PHYH protein, human