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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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Bibliografische gegevens
Hoofdauteurs: Bernardes de Jesus, Bruno M., Bjørås, Magnar, Coin, Frédéric, Egly, Jean Marc
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Microbiology (ASM) 2008
Onderwerpen:
Online toegang: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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