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Dissection of the Molecular Defects Caused by Pathogenic Mutations in the DNA Repair Factor XPC

XPC is responsible for DNA damage sensing in nucleotide excision repair (NER). Mutations in XPC lead to a defect in NER and to xeroderma pigmentosum (XP-C). Here, we analyzed the biochemical properties behind mutations found within three patients: one amino acid substitution (P334H, XP1MI, and GM020...

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Main Authors: Bernardes de Jesus, Bruno M., Bjørås, Magnar, Coin, Frédéric, Egly, Jean Marc
Format: Artigo
Jezik:Inglês
Izdano: American Society for Microbiology (ASM) 2008
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2593387/
https://ncbi.nlm.nih.gov/pubmed/18809580
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.00781-08
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