title: Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
authors.affiliation: Academic Medical Centre at the University of Amsterdam, The Netherlands.
authors.forename: Merel S
authors.initials: MS
authors.lastname: Ebberink
authors.forename: Petra A W
authors.initials: PA
authors.lastname: Mooijer
authors.forename: Jeannette
authors.initials: J
authors.lastname: Gootjes
authors.forename: Janet
authors.initials: J
authors.lastname: Koster
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
mesh_terms: D002460:Cell Line; D005787:Gene Frequency; D005816:Genetic Complementation Test / Q000706:statistics & numerical data; D005838:Genotype; D006801:Humans; D009154:Mutation; D053402:PHEX Phosphate Regulating Neutral Endopeptidase / Q000235:genetics*; D018901:Peroxisomal Disorders / Q000235:genetics; D015211:Zellweger Syndrome / Q000235:genetics*
chemical_list: D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human