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Article

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.

Journal of inherited metabolic disease - 1 May 1999

Gärtner J, Preuss N, Brosius U, Biermanns M

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10384394
DOI: 10.1023/a:1005599903632

Genes

PEX1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.PMID 10384394Read ↗

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

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.Semantic proximity Read ↗

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

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

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.Semantic proximity Read ↗

Two novel PEX1 mutations in a patient with Zellweger syndrome: the first Korean case confirmed by biochemical, and molecular evidence.Semantic proximity Read ↗

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review.Semantic proximity Read ↗

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

Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.Semantic proximity Read ↗

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

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.Semantic proximity Read ↗

Peroxisome Biogenesis Disorders.Semantic proximity Read ↗

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