Identification of PEX7 as the second gene involved in Refsum disease.
Van den Brink
Daan M
DM
Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.
Brites
Pedro
P
Haasjes
Janet
J
Wierzbicki
Anthony S
AS
Mitchell
John
J
Lambert-Hamill
Michelle
M
de Belleroche
Jacqueline
J
Jansen
Gerbert A
GA
Waterham
Hans R
HR
Wanders
Ronald J A
RJ
D006801:Humans; D006899:Mixed Function Oxygenases / Q000235:genetics; D009154:Mutation; D000074437:Peroxisomal Targeting Signal 2 Receptor; D010641:Phenotype; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012035:Refsum Disease / Q000235:genetics* / Q000378:metabolism
C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human