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Identification of the Interactors of Human Nibrin (NBN) and of Its 26 kDa and 70 kDa Fragments Arising from the NBN 657del5 Founder Mutation
Nibrin (also named NBN or NBS1) is a component of the MRE11/RAD50/NBN complex, which is involved in early steps of DNA double strand breaks sensing and repair. Mutations within the NBN gene are responsible for the Nijmegen breakage syndrome (NBS). The 90% of NBS patients are homozygous for the 657de...
Autores principales: | Cilli, Domenica, Mirasole, Cristiana, Pennisi, Rosa, Pallotta, Valeria, D'Alessandro, Angelo, Antoccia, Antonio, Zolla, Lello, Ascenzi, Paolo, di Masi, Alessandra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259352/ https://www.ncbi.nlm.nih.gov/pubmed/25485873 http://dx.doi.org/10.1371/journal.pone.0114651 |
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