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Article

A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.

Journal of human genetics - 1 Jan 1999

Shimozawa N, Suzuki Y, Zhang Z, Miura K, Matsumoto A, Nagaya M, Castillo-Taucher S, Kondo N

Abstract excerpt

Mutations in the PEX7 gene encoding a peroxisome targeting signal 2 (PTS2) were identified in two patients with rhizomelic chondrodysplasia punctata (RCDP). A 7-year-old girl, the first Japanese individual to be diagnosed biochemically as a case of RCDP, had a novel nonsense mutation, R232ter, in the PEX7 gene, which had been inherited from her consanguineous parents. Another patient, a Chilean boy with RCDP, had...

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Source

Identifiers

PMID: 10083738
DOI: 10.1007/s100380050123

Genes

PEX7

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.

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A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata.PMID 10083738Read ↗

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