Is there a phenotype/genotype correlation in peroxisome biogenesis disorders (PBDs)?
Gärtner
Jutta
J
Department of Pediatrics, Georg August University Göttingen, Robert-Koch-Strasse 40, 37075 Göttingen, Germany. gaertnj@med.uni-goettingen.de
D000074183:ATPases Associated with Diverse Cellular Activities; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D018901:Peroxisomal Disorders / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype
D008565:Membrane Proteins; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human