Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

The structural maintenance of chromosomes (SMC) family of proteins supports mitotic proliferation, meiosis, and DNA repair to control genomic stability. Impairments in chromosome maintenance are linked to rare chromosome breakage disorders. Here, we have identified a chromosome breakage syndrome ass...

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Detalles Bibliográficos
Autores principales: van der Crabben, Saskia N., Hennus, Marije P., McGregor, Grant A., Ritter, Deborah I., Nagamani, Sandesh C.S., Wells, Owen S., Harakalova, Magdalena, Chinn, Ivan K., Alt, Aaron, Vondrova, Lucie, Hochstenbach, Ron, van Montfrans, Joris M., Terheggen-Lagro, Suzanne W., van Lieshout, Stef, van Roosmalen, Markus J., Renkens, Ivo, Duran, Karen, Nijman, Isaac J., Kloosterman, Wigard P., Hennekam, Eric, Orange, Jordan S., van Hasselt, Peter M., Wheeler, David A., Palecek, Jan J., Lehmann, Alan R., Oliver, Antony W., Pearl, Laurence H., Plon, Sharon E., Murray, Johanne M., van Haaften, Gijs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4966312/
https://www.ncbi.nlm.nih.gov/pubmed/27427983
http://dx.doi.org/10.1172/JCI82890

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