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Article

Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

Human mutation - 1 Nov 2002

Maxwell Megan A, Allen Tamara, Solly Pamela B, Svingen Terje, Paton Barbara C, Crane Denis I

Abstract excerpt

The peroxisome biogenesis disorders (PBDs) are a group of neuronal migration/neurodegenerative disorders that arise from defects in PEX genes. A major subgroup of the PBDs includes Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). These three disorders represent a clinical continuum with Zellweger syndrome the most severe. Mutations in the PEX1 gene, which encodes...

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Source

Identifiers

PMID: 12402331
DOI: 10.1002/humu.10128

Genes

PEX1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.PMID 12402331Read ↗

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