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Article

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

Journal of medical genetics - 1 Sept 2005

Rosewich H, Ohlenbusch A, Gärtner J

Abstract excerpt

OBJECTIVE: To analyse the PEX1 gene, the most common cause for peroxisome biogenesis disorders (PBD), in a consecutive series of patients with Zellweger spectrum. METHODS: Mutations were detected by different methods including SSCP analyses as a screening technique on the basis of genomic or cDNA, followed by direct sequencing of PCR fragments with an abnormal electrophoresis pattern. RESULTS: 33 patients were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16141001
DOI: 10.1136/jmg.2005.033324
PMCID: PMC1736134

Genes

PEX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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