Φορτώνει......
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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurogenetics |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | 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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