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Article

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

American journal of medical genetics. Part A - 1 Jul 2003

Shimozawa Nobuyuki, Nagase Tomoko, Takemoto Yasuhiko, Ohura Toshihiro, Suzuki Yasuyuki, Kondo Naomi

Abstract excerpt

We, as the only diagnostic center for peroxisome biogenesis disorders (PBD) in Japan, identified a total of 31 Japanese patients with PBD during the last 20 years. They were 27 patients with Zellweger syndrome (ZS), including two sib cases, three with neonatal adrenoleukodystrophy (NALD) and one with rhizomelic type chondrodysplasia punctata (RCDP). No patient with infantile Refsum disease has been detected....

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Source

Identifiers

PMID: 12794690
DOI: 10.1002/ajmg.a.20030

Genes

PEX10
PEX1
PEX2
PEX6
PEX7

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.

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Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation.PMID 12794690Read ↗

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