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Article

c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.

Archives of dermatological research - 1 Jan 2013

Senhaji Mohamed Amine, Abidi Omar, Nadifi Sellama, Benchikhi Hakima, Khadir Khadija, Ben Rekaya Mariem, Eloualid Abdelmajid, Messaoud Olfa, Abdelhak Sonia, Barakat Abdelhamid

Abstract excerpt

Xeroderma pigmentosum is a rare autosomal recessive disease characterized by hypersensitivity to UV light which is due to alterations of the nucleotide excision repair pathway. Eight genes (XPA to XPG and XPV) are responsible for the disease. Among them, the XPC gene is known to be the most mutated in Mediterranean patients. The aim of this study was to determine the frequency of the most common XPC mutation and...

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Identifiers

PMID: 23143338
DOI: 10.1007/s00403-012-1299-0

Genes

XPC
XPA

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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c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.PMID 23143338Read ↗

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.Semantic proximity Read ↗

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Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.Semantic proximity Read ↗

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