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 › Missense
Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
Liang JS et al.
Epilepsy & Behavior : E&b, 2023
A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review.
Lu P et al.
Translational Pediatrics, 2021
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Ebberink MS et al.
Human Mutation, 2011
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
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