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PARP10 deficiency manifests by infantile neurodegeneration and DNA repair defect

DNA repair mechanisms such as Nucleotide Excision Repair (NER) and Translesion Synthesis (TLS) are dependent on proliferating cell nuclear antigen (PCNA), a DNA polymerase accessory protein. Recently, homozygosity for p.Ser228Ile mutation in the PCNA gene was reported in patients with neurodegenerat...

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Bibliografske podrobnosti
izdano v:Neurogenetics
Main Authors: Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly
Format: Artigo
Jezik:Inglês
Izdano: 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5096377/
https://ncbi.nlm.nih.gov/pubmed/27624574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-016-0493-1
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