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Article

Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.

International journal of dermatology - 1 Aug 2020

Karagün Ebru, Eroz Recep, Gamsızkan Mehmet, Baysak Sevim, Eyup Yavuz, Ozcan Yunus

Abstract excerpt

BACKGROUND: Xeroderma pigmentosum (XP) is a rare photosensitive syndrome, which is divided into eight complementation groups (XP-A to XP-G and XPV) and characterized by skin cancers diagnosed at early age. A family of seven members (age range between 5 and 47 years) with carriers of the novel nonsense mutation that causes XP-E type were included in the current study. METHODS: DNA was isolated from peripheral...

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Identifiers

PMID: 32530099
DOI: 10.1111/ijd.14957

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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