Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
Jansen
G A
GA
University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, The Netherlands.
Ferdinandusse
S
S
Skjeldal
O H
OH
Stokke
O
O
de Groot
C J
CJ
Jakobs
C
C
Wanders
R J
RJ
D019943:Amino Acid Substitution; D002478:Cells, Cultured; D018076:DNA, Complementary; D005347:Fibroblasts; D006801:Humans; D006899:Mixed Function Oxygenases / Q000235:genetics*; D009154:Mutation; D012035:Refsum Disease / Q000201:enzymology* / Q000235:genetics; D017422:Sequence Analysis, DNA
D018076:DNA, Complementary; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human