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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Proc Natl Acad Sci U S A
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: National Academy of Sciences 2019
विषय:
Biological Sciences
ऑनलाइन पहुंच: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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