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Article

Genetic investigation of XPA gene: high frequency of the c.682C>T mutation in Moroccan XP patients with moderate clinical profile.

BMC research notes - 6 Dec 2017

Kindil Zineb, Senhaji Mohamed Amine, Bakhchane Amina, Charoute Hicham, Chihab Soumia, Nadifi Sellama, Barakat Abdelhamid

Abstract excerpt

OBJECTIVE: Xeroderma pigmentosum (XP) is a genetically and clinically heterogeneous disease, associated with an inherited defect in one of eight different genes (XPA to XPG and XPV). In addition to the early onset of the skin manifestations, the XP group A is marked by the presence of a mild to severe neural disorders which appear tardily and worsens with age. In this study, 9 patients with moderate clinical...

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Identifiers

PMID: 29208038
DOI: 10.1186/s13104-017-3042-6
PMCID: PMC5718079

Genes

XPA

Variants

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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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