Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of PEX7 as the second gene involved in Refsum disease.

Advances in experimental medicine and biology - 1 Jan 2003

Van den Brink Daan M, Brites Pedro, Haasjes Janet, Wierzbicki Anthony S, Mitchell John, Lambert-Hamill Michelle, de Belleroche Jacqueline, Jansen Gerbert A, Waterham Hans R, Wanders Ronald J A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Mixed Function Oxygenases
Share to Mutation
Share to Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Receptors, Cytoplasmic and Nuclear

Source

Identifiers

PMID: 14713215
DOI: 10.1007/978-1-4419-9072-3_9

Genes

PEX7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of PEX7 as the second gene involved in Refsum disease.PMID 14713215Read ↗

Identification of PAHX, a Refsum disease geneSemantic proximity Read ↗

Identification of PEX7 as the second gene involved in Refsum disease.Semantic proximity Read ↗

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.Semantic proximity Read ↗

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).Semantic proximity Read ↗

Phenotype of adult Refsum disease due to a defect in peroxin 7.Semantic proximity Read ↗

Identification of a common PEX1 mutation in Zellweger syndrome.Semantic proximity Read ↗

PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.Semantic proximity Read ↗

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic ricketsSemantic proximity Read ↗

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

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

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.Semantic proximity Read ↗

Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.