Associated Papers
A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
Galarreta CI et al.
American Journal of Medical Genetics. Part A, 2023
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.
Zaki MS et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.
Demaret T et al.
Pediatric Transplantation, 2018
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik WY et al.
Human Mutation, 2009
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.
Steinberg S et al.
Molecular Genetics and Metabolism, 2004
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