Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders

Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders

XPF endonuclease is one of the most important DNA repair proteins. Encoded by XPF/ERCC4, XPF provides the enzymatic activity of XPF-ERCC1 heterodimer, an endonuclease that incises at the 5’ side of various DNA lesions. XPF is essential for nucleotide excision repair (NER) and interstrand crosslink r...

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Bibliographic Details
Main Authors: Maria Marín, María José Ramírez, Miriam Aza Carmona, Nan Jia, Tomoo Ogi, Massimo Bogliolo, Jordi Surrallés
Format: Article
Language:English
Published: MDPI AG 2019-01-01
Series:Genes
Subjects:
XPF-KO
XPF/ERCC4 mutations
DNA repair
genotype-phenotype correlation
Online Access:http://www.mdpi.com/2073-4425/10/1/60

Internet

http://www.mdpi.com/2073-4425/10/1/60

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