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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Main Authors: 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
Sprog:Inglês
Udgivet: 1995
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801309/
https://ncbi.nlm.nih.gov/pubmed/7825573
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