title: Identification of PEX7 as the second gene involved in Refsum disease.
authors.affiliation: Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands.
authors.forename: Daan M
authors.initials: DM
authors.lastname: Van den Brink
authors.forename: Pedro
authors.initials: P
authors.lastname: Brites
authors.forename: Janet
authors.initials: J
authors.lastname: Haasjes
authors.forename: Anthony S
authors.initials: AS
authors.lastname: Wierzbicki
authors.forename: John
authors.initials: J
authors.lastname: Mitchell
authors.forename: Michelle
authors.initials: M
authors.lastname: Lambert-Hamill
authors.forename: Jacqueline
authors.initials: J
authors.lastname: de Belleroche
authors.forename: Gerbert A
authors.initials: GA
authors.lastname: Jansen
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: 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
chemical_list: C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human