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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: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Microbiology (ASM)
2008
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| Assuntos: | |
| Acesso em linha: | 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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