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Article

Xeroderma pigmentosum-variant patients from America, Europe, and Asia.

The Journal of investigative dermatology - 1 Aug 2008

Inui Hiroki, Oh Kyu-Seon, Nadem Carine, Ueda Takahiro, Khan Sikandar G, Metin Ahmet, Gozukara Engin, Emmert Steffen, Slor Hanoch, Busch David B, Baker Carl C, DiGiovanna John J, Tamura Deborah, Seitz Cornelia S, Gratchev Alexei, Wu Wen Hao, Chung Kee Yang, Chung Hye Jin, Azizi Esther, Woodgate Roger, Schneider Thomas D, Kraemer Kenneth H

Abstract excerpt

Xeroderma pigmentosum-variant (XP-V) patients have sun sensitivity and increased skin cancer risk. Their cells have normal nucleotide excision repair, but have defects in the POLH gene encoding an error-prone polymerase, DNA polymerase eta (pol eta). To survey the molecular basis of XP-V worldwide, we measured pol eta protein in skin fibroblasts from putative XP-V patients (aged 8-66 years) from 10 families in...

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Identifiers

PMID: 18368133
DOI: 10.1038/jid.2008.48
PMCID: PMC2562952

Genes

POLH

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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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