Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Mutational screening of the breast cancer susceptibility gene BRCA1 leads to the identification of numerous pathogenic variants such as frameshift and nonsense variants, as well as large genomic rearrangements. The screening moreover identifies a large number of variants, for example, missense, sile...

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Detalles Bibliográficos
Autores principales: Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231409/
https://www.ncbi.nlm.nih.gov/pubmed/24667779
http://dx.doi.org/10.1038/ejhg.2014.40

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231409/
https://www.ncbi.nlm.nih.gov/pubmed/24667779
http://dx.doi.org/10.1038/ejhg.2014.40

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