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Article

A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.

The Journal of investigative dermatology - 1 Aug 1999

Itoh T, Mori T, Ohkubo H, Yamaizumi M

Abstract excerpt

We report here a patient (Ops1) with clinical photosensitivity, including pigmented or depigmented macules and patches, and multiple skin neoplasias (malignant melanomas, basal cell carcinomas, and squamous cell carcinomas in situ) in sun-exposed areas. These clinical features are reminiscent of xeroderma pigmentosum. As cells from Ops1 showed normal levels in DNA repair synthesis in vivo (unscheduled DNA...

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Source

Identifiers

PMID: 10469312
DOI: 10.1046/j.1523-1747.1999.00652.x

Genes

DDB2

Provenance

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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A newly identified patient with clinical xeroderma pigmentosum phenotype has a non-sense mutation in the DDB2 gene and incomplete repair in (6-4) photoproducts.PMID 10469312Read ↗

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