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Functional and molecular genetic analyses of nine newly identified XPD‐deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes |
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| Authors: | Annika Schäfer Alexei Gratchev Christina Seebode Lars Hofmann Steffen Schubert Petra Laspe Antje Apel Andreas Ohlenbusch Mladen Tzvetkov Carsten Weishaupt Vinzenz Oji Michael P. Schön Steffen Emmert |
| Affiliation: | 1. Department of Dermatology, Venerology and Allergology, University Medical Center G?ttingen, , G?ttingen, Germany;2. Department of Dermatology, Venerology and Allergology, University Medical Center Mannheim, , Mannheim, Germany;3. Department of Pediatrics, University Medical Center G?ttingen, , G?ttingen, Germany;4. Department of Clinical Pharmacology, University Medical Center G?ttingen, , G?ttingen, Germany;5. Department of Dermatology and Venerology, University Medical Center Münster, , Münster, Germany |
| Abstract: | |
| Keywords: | Cockayne syndrome nucleotide excision repair skin cancer trichothiodystrophy ultraviolet radiation xeroderma pigmentosum XPD |