Hypomorphic PCNA mutation underlies a human DNA repair disorder

Hypomorphic PCNA mutation underlies a human DNA repair disorder

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Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result from the mutation of genes encoding molecules important for nucleotide excision repair. Here, we describe a syndrome in which the cardinal clinical features include sh...

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Bibliographic Details
Main Authors: Baple, E, Chambers, H, Cross, H, Fawcett, H, Nakazawa, Y, Chioza, B, Harlalka, G, Mansour, S, Sreekantan-Nair, A, Patton, M, Muggenthaler, M, Rich, P, Wagner, K, Coblentz, R, Stein, C, Last, J, Taylor, A, Jackson, A, Ogi, T, Lehmann, A, Green, C, Crosby, A
Format: Journal article
Language:English
Published: American Society for Clinical Investigation 2014

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