Molecular and Cellular Analysis of the DNA Repair Defect in a Patient in Xeroderma Pigmentosum Complementation Group D Who Has the Clinical Features of Xeroderma Pigmentosum and Cockayne Syndrome

Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are quite distinct genetic disorders that are associated with defects in excision repair of UV-induced DNA damage. A few patients have been described previously with the clinical features of both disorders. In this paper we describe an individual...

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Hauptverfasser: Broughton, B. C., Thompson, A. F., Harcourt, S. A., Vermeulen, W., Hoeijmakers, J. H. J., Botta, E., Stefanini, M., King, M. D., Weber, C. A., Cole, J., Arlett, C. F., Lehmann, A. R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1995
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801309/
https://ncbi.nlm.nih.gov/pubmed/7825573
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