Associated Papers
Distinguishing PEX2 and PEX16 gene variant severity for mild, severe and atypical peroxisome biogenesis disorders.
Gomez VA et al.
Disease Models & Mechanisms, 2025
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
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
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