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Article

A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Dec 2015

Lehmann J, Schubert S, Schäfer A, Laspe P, Haenssle H A, Ohlenbusch A, Gratchev A, Emmert S

Abstract excerpt

BACKGROUND: The nucleotide excision repair (NER) pathway repairs UV-induced DNA lesions in an accurate fashion and prevents UV-irradiated areas of the skin from tumour formation. The XPA protein plays a major role in DNA damage demarcation as well as stabilization of other NER factors and was found to be defective in xeroderma pigmentosum (XP) complementation group A patients. OBJECTIVE: Characterization of four...

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Identifiers

PMID: 25393472
DOI: 10.1111/jdv.12841

Genes

XPA

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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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A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype.PMID 25393472Read ↗

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