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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...

詳細記述

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書誌詳細
主要な著者: Bernardes de Jesus, Bruno M., Bjørås, Magnar, Coin, Frédéric, Egly, Jean Marc
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Microbiology (ASM) 2008
主題:
オンライン・アクセス: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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