title: Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.
authors.affiliation: Laboratory Genetic Metabolic Diseases and the Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.
authors.forename: Jeannette
authors.initials: J
authors.lastname: Gootjes
authors.forename: Hanna
authors.initials: H
authors.lastname: Mandel
authors.forename: Petra A W
authors.initials: PA
authors.lastname: Mooijer
authors.forename: Frank
authors.initials: F
authors.lastname: Roels
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D000293:Adolescent; D002459:Cell Fusion; D002460:Cell Line; D018389:Codon, Nonsense; D005816:Genetic Complementation Test; D006720:Homozygote; D006801:Humans; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009030:Mosaicism; D000074428:Peroxisomal Biogenesis Factor 2; D018901:Peroxisomal Disorders / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; D000074428:Peroxisomal Biogenesis Factor 2