Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation

Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation

Abstract 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 muta...

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Bibliographic Details
Main Authors: Jing Liu, Yu Liu, Jingxuan Fu, Chengeng Liu, Tingting Yang, Xiaomin Zhang, Min Cao, Peichang Wang
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
DNA polymerase δ
Fanconi anemia
POLD1 mutation
Online Access:https://doi.org/10.1002/mgg3.1280

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