Hypomorphic PCNA mutation underlies a human DNA repair disorder

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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Autori principali: Baple, Emma L., Chambers, Helen, Cross, Harold E., Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A., Harlalka, Gaurav V., Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A., Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K., Last, James I., Taylor, A. Malcolm R., Jackson, Andrew P., Ogi, Tomoo, Lehmann, Alan R., Green, Catherine M., Crosby, Andrew H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2014
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4071375/
https://ncbi.nlm.nih.gov/pubmed/24911150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI74593
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