Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein

Bloom syndrome (BS) is an autosomal recessive disorder characterized by genomic instability and the early development of many types of cancer. Missense mutations have been identified in the BLM gene (encoding a RecQ helicase) in affected individuals, but the molecular mechanism and the structural ba...

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Dettagli Bibliografici
Autori principali: Guo, Rong-Bing, Rigolet, Pascal, Ren, Hua, Zhang, Bo, Zhang, Xing-Dong, Dou, Shuo-Xing, Wang, Peng-Ye, Amor-Gueret, Mounira, Xi, Xu Guang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2007
Soggetti:
Nucleic Acid Enzymes
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2094094/
https://ncbi.nlm.nih.gov/pubmed/17878217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkm536
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