Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.

Background Disrupted pre-mRNA splicing is a frequent deleterious mechanism in hereditary cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast cancer susceptibility gene CHEK2 by splicing reporter minigenes. Methods A total of 128 CHEK2 splice-site variants identifie...

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Publicado en:	Clinical Chemistry Vol. 70; no. 1; pp. 319 - 339
Autores principales:	Sanoguera-Miralles, Lara, Valenzuela-Palomo, Alberto, Bueno-Martínez, Elena, Esteban-Sánchez, Ada, Lorca, Víctor, Llinares-Burguet, Inés, García-Álvarez, Alicia, Pérez-Segura, Pedro, Infante, Mar, Easton, Douglas F, Devilee, Peter, Vreeswijk, Maaike P G, de la Hoya, Miguel, Velasco-Sampedro, Eladio A
Formato:	Journal Article
Publicado:	Oxford University Press / USA Jan2024
Acceso en línea:	Ver este registro en EBSCOhost