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Article

Founder mutations in xeroderma pigmentosum.

The Journal of investigative dermatology - 1 Jun 2010

Tamura Deborah, DiGiovanna John J, Kraemer Kenneth H

Abstract excerpt

In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20463673
DOI: 10.1038/jid.2010.76
PMCID: PMC3486739

Genes

XPC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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