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Article

Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

Human mutation - 1 Jan 2000

Warren D S, Wolfe B D, Gould S J

Abstract excerpt

The peroxisome biogenesis disorders (PBD) are characterized by neural, hepatic, and renal deficiencies, severe mental retardation, and are often lethal. These disorders are genetically and phenotypically heterogeneous and are caused by defective peroxisomal protein import and decreased peroxisomal metabolic function. Mutations in PEX10 have been identified in patients from complementation group 7 (CG7) of the...

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Source

Identifiers

PMID: 10862081
DOI: 10.1002/1098-1004(200006)15:6<509::AID-HUMU3>3.0.CO;2-#

Genes

PEX10

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.

Related research

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Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.PMID 10862081Read ↗

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

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

Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.Semantic proximity Read ↗

Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders.Semantic proximity Read ↗

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