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Article

Molecular genetics of Xeroderma pigmentosum variant.

Experimental dermatology - 1 Oct 2003

Gratchev Alexei, Strein Pamela, Utikal Jochen, Sergij Goerdt

Abstract excerpt

Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by sun sensitivity, early onset of freckling and subsequent neoplastic changes on sun-exposed skin. Skin abnormalities result from an inability to repair UV-damaged DNA because of defects in the nucleotide excision repair (NER) machinery. Xeroderma pigmentosum is genetically heterogeneous and is classified into seven complementation groups...

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Source

Identifiers

PMID: 14705792
DOI: 10.1034/j.1600-0625.2003.00124.x

Genes

POLH
XPA

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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