Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

Numerous pathogenic DNA variants impair the splicing mechanism in human genetic diseases. Minigenes are optimal approaches to test variants under the splicing viewpoint without the need of patient samples. We aimed to design a robust minigene construct of the breast cancer gene BRCA2 in order to inv...

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Detalles Bibliográficos
Autores principales: Acedo, Alberto, Hernández-Moro, Cristina, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Velasco, Eladio A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371643/
https://www.ncbi.nlm.nih.gov/pubmed/25382762
http://dx.doi.org/10.1002/humu.22725

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371643/
https://www.ncbi.nlm.nih.gov/pubmed/25382762
http://dx.doi.org/10.1002/humu.22725

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