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Article

Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.

American journal of human genetics - 1 Nov 1998

Chang C C, Gould S J

Abstract excerpt

The peroxisome-biogenesis disorders (PBDs) are a set of often lethal genetic diseases characterized by mental retardation and defective peroxisomal matrix protein import. Mutations in PEX12 are known to underlie the disease in two patients from complementation group 3 of the PBDs. Here we show that all patients from this group carry mutations on both alleles of PEX12. A comparison between PEX12 genotypes and the...

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Identifiers

PMID: 9792857
DOI: 10.1086/302103
PMCID: PMC1377540

Genes

PEX12

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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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Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.PMID 9792857Read ↗

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

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Genetics and molecular basis of human peroxisome biogenesis disorders.Semantic proximity Read ↗

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

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.Semantic proximity Read ↗

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PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G.Semantic proximity Read ↗

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