Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.
Gärtner
J
J
Department of Paediatrics, Heinrich Heine University Düsseldorf, Germany.
Preuss
N
N
Brosius
U
U
Biermanns
M
M
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
D008565:Membrane Proteins; D001224:Aspartic Acid; D000074183:ATPases Associated with Diverse Cellular Activities; C111808:PEX1 protein, human; D005998:Glycine