PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

doi:10.1203/00006450-200206000-00008

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Article

PEX1 mutations in complementation group 1 of Zellweger spectrum patients correlate with severity of disease.

Pediatric research - 1 Jun 2002

Preuss Natalie, Brosius Ute, Biermanns Martina, Muntau Ania C, Conzelmann Ernst, Gartner Jutta

Abstract excerpt

The peroxisome biogenesis disorders (PBD) are a group of autosomal-recessive diseases with complex developmental and metabolic phenotypes, including the Zellweger spectrum and rhizomelic chondrodysplasia punctata. The diseases are caused by defects in peroxisomal matrix protein import and are characterized by the loss of multiple peroxisomal metabolic functions. In humans, 12 complementation groups have been...

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Share to ATPases Associated with Diverse Cellular Activities
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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: 12032265
DOI: 10.1203/00006450-200206000-00008

Genes

PEX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.