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Reversible mislocalization of a disease-associated MRE11 splice variant product

Ataxia-telangiectasia (AT) and related disorders feature cancer predisposition, neurodegeneration, and immunodeficiency resulting from failure to respond to DNA damage. Hypomorphic mutations in MRE11 cause an AT-like disorder (ATLD) with variable clinical presentation. We have sought to understand h...

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Detalles Bibliográficos
Autores principales: Hartlerode, Andrea J., Regal, Joshua A., Ferguson, David O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031676/
https://www.ncbi.nlm.nih.gov/pubmed/29973640
http://dx.doi.org/10.1038/s41598-018-28370-5