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Article

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

Human mutation - 1 Sept 2005

Crane Denis I, Maxwell Megan A, Paton Barbara C

Abstract excerpt

Diseases of the Zellweger spectrum represent a major subgroup of the peroxisome biogenesis disorders, a group of autosomal-recessive diseases that are characterized by widespread tissue pathology, including neurodegeneration. The Zellweger spectrum represents a clinical continuum, with Zellweger syndrome (ZS) having the most severe phenotype, and neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease...

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Source

Identifiers

PMID: 16086329
DOI: 10.1002/humu.20211

Genes

PEX1

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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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PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.PMID 16086329Read ↗

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Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.Semantic proximity Read ↗

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.Semantic proximity Read ↗

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.Semantic proximity Read ↗

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