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Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation
BACKGROUND: Fanconi anemia (FA) is a rare recessive disease characterized by DNA damage repair deficiency, and DNA polymerase δ (whose catalytic subunit is encoded by POLD1, also known as CDC2) is closely related to DNA damage repair. Our previous study identified a novel POLD1 missense mutation c.5...
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| Vydáno v: | Mol Genet Genomic Med |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
John Wiley and Sons Inc.
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7434749/ https://ncbi.nlm.nih.gov/pubmed/32432416 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1280 |
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