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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Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: 2016
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Article
Acceso en liña: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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