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RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

SIMPLE SUMMARY: In the BRIDGES project, the breast/ovarian cancer gene RAD51D has been sequenced in >113,000 women. In the present study, we focused on the impact that 11 pre-selected RAD51D variants at the intron/exon boundaries had on the splicing process (intron removal). For this purpose, we...

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Detalles Bibliográficos
Autores principales: Bueno-Martínez, Elena, Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Lorca, Víctor, Gómez-Sanz, Alicia, Carvalho, Sara, Allen, Jamie, Infante, Mar, Pérez-Segura, Pedro, Lázaro, Conxi, Easton, Douglas F., Devilee, Peter, Vreeswijk, Maaike P. G., de la Hoya, Miguel, Velasco, Eladio A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8201001/
https://www.ncbi.nlm.nih.gov/pubmed/34200360
http://dx.doi.org/10.3390/cancers13112845