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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Detalles Bibliográficos
Autores principales: Guo, Rong-Bing, Rigolet, Pascal, Ren, Hua, Zhang, Bo, Zhang, Xing-Dong, Dou, Shuo-Xing, Wang, Peng-Ye, Amor-Gueret, Mounira, Xi, Xu Guang
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2094094/
https://www.ncbi.nlm.nih.gov/pubmed/17878217
http://dx.doi.org/10.1093/nar/gkm536