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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Dettagli Bibliografici
Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2019
Soggetti:
Biological Sciences
Accesso online: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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