A dominant mutation in human RAD51 reveals its function in DNA interstrand crosslink repair independent of homologous recombination

Repair of DNA interstrand crosslinks requires action of multiple DNA repair pathways, including homologous recombination. Here, we report a de novo heterozygous T131P mutation in RAD51/FANCR, the key recombinase essential for homologous recombination, in a patient with Fanconi anemia-like phenotype....

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Detaylı Bibliyografya
Yayımlandı:Mol Cell
Asıl Yazarlar: Wang, Anderson T., Kim, Taeho, Wagner, John E., Conti, Brooke A., Lach, Francis P., Huang, Athena L., Molina, Henrik, Sanborn, Erica M., Zierhut, Heather, Cornes, Belinda K., Abhyankar, Avinash, Sougnez, Carrie, Gabriel, Stacey B., Auerbach, Arleen D., Kowalczykowski, Stephen C., Smogorzewska, Agata
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4529964/
https://ncbi.nlm.nih.gov/pubmed/26253028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.molcel.2015.07.009
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