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Acquired cross-linker resistance associated with a novel spliced BRCA2 protein variant for molecular phenotyping of BRCA2 disruption
BRCA2 encodes a protein with a fundamental role in homologous recombination that is essential for normal development. Carrier status of mutations in BRCA2 is associated with familial breast and ovarian cancer, while bi-allelic BRCA2 mutations can cause Fanconi anemia (FA), a cancer predisposition sy...
Autores principales: | Meyer, Stefan, Stevens, Adam, Paredes, Roberto, Schneider, Marion, Walker, Michael J, Williamson, Andrew J K, Gonzalez-Sanchez, Maria-Belen, Smetsers, Stephanie, Dalal, Vineet, Teng, Hsiang Ying, White, Daniel J, Taylor, Sam, Muter, Joanne, Pierce, Andrew, de Leonibus, Chiara, Rockx, Davy A P, Rooimans, Martin A, Spooncer, Elaine, Stauffer, Stacey, Biswas, Kajal, Godthelp, Barbara, Dorsman, Josephine, Clayton, Peter E, Sharan, Shyam K, Whetton, Anthony D |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520920/ https://www.ncbi.nlm.nih.gov/pubmed/28617445 http://dx.doi.org/10.1038/cddis.2017.264 |
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