An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

DNA polymerase delta, whose catalytic subunit is encoded by POLD1, is responsible for lagging strand DNA synthesis during DNA replication(1). It achieves this with high fidelity due to its intrinsic 3′ to 5′ exonuclease activity, which confers proofreading ability. Missense mutations in the exonucle...

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Detalles Bibliográficos
Autores principales: Weedon, Michael N., Ellard, Sian, Prindle, Marc J., Caswell, Richard, Allen, Hana Lango, Oram, Richard, Godbole, Koumudi, Yajnik, Chittaranjan S., Sbraccia, Paolo, Novelli, Giuseppe, Turnpenny, Peter, McCann, Emma, Goh, Kim Jee, Wang, Yukai, Fulford, Jonathan, McCulloch, Laura J., Savage, David B., O’Rahilly, Stephen, Kos, Katarina, Loeb, Lawrence A., Semple, Robert K., Hattersley, Andrew T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785143/
https://www.ncbi.nlm.nih.gov/pubmed/23770608
http://dx.doi.org/10.1038/ng.2670

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