Browsing Human- und Zahnmedizin by Referee "Kramer, Wilfried PD Dr."
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Clinical, functional, and genetic analysis of NER defective patients and characterization of five novel XPG mutations
(2013-02-12)Abstract Xeroderma pigmentosum (XP), Trichothiodystrophy (TTD), and Cockayne Syndrome (CS) are rare (incidence ~1 to 1 million) recessively inherited genetic diseases arising from genetic defects in the nucleotide excision ...