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Reduction of hRNase H2 activity in Aicardi–Goutières syndrome cells leads to replication stress and genome instability

Aicardi–Goutières syndrome (AGS) is an inflammatory encephalopathy caused by defective nucleic acids metabolism. Over 50% of AGS mutations affect RNase H2 the only enzyme able to remove single ribonucleotidemonophosphates (rNMPs) embedded in DNA. Ribonucleotide triphosphates (rNTPs) are incorporated...

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Bibliografski detalji
Izdano u:Hum Mol Genet
Glavni autori: Pizzi, Sara, Sertic, Sarah, Orcesi, Simona, Cereda, Cristina, Bianchi, Marika, Jackson, Andrew P., Lazzaro, Federico, Plevani, Paolo, Muzi-Falconi, Marco
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
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Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4291245/
https://ncbi.nlm.nih.gov/pubmed/25274781
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu485
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