Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink
Merel S
MS
Academic Medical Centre at the University of Amsterdam, The Netherlands.
Mooijer
Petra A W
PA
Gootjes
Jeannette
J
Koster
Janet
J
Wanders
Ronald J A
RJ
Waterham
Hans R
HR
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*
D053402:PHEX Phosphate Regulating Neutral Endopeptidase; C506231:PHEX protein, human