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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
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Microbiology (ASM) 2008
Ábhair:
Rochtain Ar Líne: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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