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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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Библиографические подробности
Опубликовано в: :Neurogenetics
Главные авторы: Shahrour, Maher Awni, Nicolae, Claudia M., Edvardson, Simon, Ashhab, Motee, Galvan, Adri M., Constantin, Daniel, Abu-Libdeh, Bassam, Moldovan, George-Lucian, Elpeleg, Orly
Формат: Artigo
Язык:Inglês
Опубликовано: 2016
Предметы:
Online-ссылка: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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