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Article

Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.

Experimental dermatology - 1 Jan 2013

Schäfer Annika, Hofmann Lars, Gratchev Alexei, Laspe Petra, Schubert Steffen, Schürer Anke, Ohlenbusch Andreas, Tzvetkov Mladen, Hallermann Christian, Reichrath Jörg, Schön Michael P, Emmert Steffen

Abstract excerpt

Patients belonging to xeroderma pigmentosum (XP) complementation group C comprise one-third of all XP patients. Only four major reports compiled larger groups of XP-C patients from southern Europe (12 pts), North America (16 pts) and Africa (14 and 56 pts) as well as their genetic background (46 XPC mutations). We identified 16 XP-C patients from Germany. Interestingly, only five patients exhibited severe sun...

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PMID: 23173980
DOI: 10.1111/exd.12052

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XPC

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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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