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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2019
Fag:
Biological Sciences
Online adgang: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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