Associated Papers
Distinguishing PEX gene variant severity for mild, severe, and atypical peroxisome biogenesis disorders in Drosophila.
Gomez VA et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetics and molecular basis of human peroxisome biogenesis disorders.
Waterham HR et al.
Biochimica Et Biophysica Acta, 2012
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Gootjes J et al.
Pediatric Research, 2004
Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.
Gootjes J et al.
Advances in Experimental Medicine and Biology, 2003
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