Characterization of splice-altering mutations in inherited predisposition to cancer

Mutations responsible for inherited disease may act by disrupting normal transcriptional splicing. Such mutations can be difficult to detect, and their effects difficult to characterize, because many lie deep within exons or introns where they may alter splice enhancers or silencers or introduce new...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Casadei, Silvia, Gulsuner, Suleyman, Shirts, Brian H., Mandell, Jessica B., Kortbawi, Hannah M., Norquist, Barbara S., Swisher, Elizabeth M., Lee, Ming K., Goldberg, Yael, O’Connor, Robert, Tan, Zheng, Pritchard, Colin C., King, Mary-Claire, Walsh, Tom
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2019
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6936554/
https://ncbi.nlm.nih.gov/pubmed/31843900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1915608116
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