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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Detalles Bibliográficos
Autores principales: Liu, Jing, Liu, Yu, Fu, Jingxuan, Liu, Chengeng, Yang, Tingting, Zhang, Xiaomin, Cao, Min, Wang, Peichang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434749/
https://www.ncbi.nlm.nih.gov/pubmed/32432416
http://dx.doi.org/10.1002/mgg3.1280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434749/
https://www.ncbi.nlm.nih.gov/pubmed/32432416
http://dx.doi.org/10.1002/mgg3.1280

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