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Article

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.

European journal of human genetics : EJHG - 1 Feb 2004

Gootjes Jeannette, Schmohl Frank, Waterham Hans R, Wanders Ronald J A

Abstract excerpt

The peroxisome biogenesis disorders (PBDs) form a genetically and clinically heterogeneous group of disorders due to defects in at least 11 distinct genes. The prototype of this group of disorders is Zellweger syndrome (ZS), with neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) as milder variants. Liver disease, variable neurodevelopmental delay, retinopathy and perceptive deafness are...

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Source

Identifiers

PMID: 14571262
DOI: 10.1038/sj.ejhg.5201090

Genes

PEX12

Provenance

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.PMID 14571262Read ↗

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.Semantic proximity Read ↗

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.Semantic proximity Read ↗

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Semantic proximity Read ↗

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.Semantic proximity Read ↗

Genotype-phenotype correlations in disorders of peroxisome biogenesis.Semantic proximity Read ↗

A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.Semantic proximity Read ↗

PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.Semantic proximity Read ↗

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.Semantic proximity Read ↗

Identification of a novel PEX14 mutation in Zellweger syndrome.Semantic proximity Read ↗

Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels.Semantic proximity Read ↗

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.Semantic proximity Read ↗

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.Semantic proximity Read ↗

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