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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...
Gorde:
| Argitaratua izan da: | Neurogenetics |
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| Egile Nagusiak: | , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2016
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| Gaiak: | |
| Sarrera elektronikoa: | 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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