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Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk
Authors:Wim J Kleijer  Marianne L T van der Sterre  Victor H Garritsen  Anja Raams  Nicolaas G J Jaspers
Institution:1. Departments of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands;2. Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands
Abstract:
Keywords:prenatal diagnosis  Xeroderma pigmentosum  trichothiodystrophy  DNA repair defect  nucleotide excision repair
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