Article
Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription.
The Journal of investigative dermatology - 1 Jul 2013
Schäfer Annika, Schubert Steffen, Gratchev Alexei, Seebode Christina, Apel Antje, Laspe Petra, Hofmann Lars, Ohlenbusch Andreas, Mori Toshio, Kobayashi Nobuhiko, Schürer Anke, Schön Michael P, Emmert Steffen
Abstract excerpt
Only 16 XPG-defective patients with 20 different mutations have been described. The current hypothesis is that missense mutations impair repair (xeroderma pigmentosum (XP) symptoms), whereas truncating mutations impair both repair and transcription (XP and Cockayne syndrome (CS) symptoms). We identified three cell lines of XPG-defective patients (XP40GO, XP72MA, and XP165MA). Patients' fibroblasts showed a...
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