Associated Papers
Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling.
Malone KE et al.
Genetics in Medicine Open, 2025
40519747 (PubMed )
Supplement: mmc1.xlsx › Known_pathogenic_variants
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
PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
Crane DI et al.
Human Mutation, 2005
Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.
Maxwell MA et al.
Human Mutation, 2005
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.
Rosewich H et al.
Journal of Medical Genetics, 2005
Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
Maxwell MA et al.
Human Mutation, 2002
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