title: Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.
authors.affiliation: Department of Paediatrics, Heinrich Heine University Düsseldorf, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Gärtner
authors.forename: N
authors.initials: N
authors.lastname: Preuss
authors.forename: U
authors.initials: U
authors.lastname: Brosius
authors.forename: M
authors.initials: M
authors.lastname: Biermanns
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D001224:Aspartic Acid / Q000235:genetics; D002648:Child; D005998:Glycine / Q000235:genetics; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000235:genetics*; D008830:Microbodies; D009154:Mutation; D018901:Peroxisomal Disorders / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D015211:Zellweger Syndrome / Q000235:genetics / Q000503:physiopathology
chemical_list: D008565:Membrane Proteins; D001224:Aspartic Acid; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human; D005998:Glycine