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Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

Mutations that affect splicing of precursor messenger RNAs play a major role in the development of hereditary diseases. Most splicing mutations have been found to eliminate GT or AG dinucleotides that define the 5′ and 3′ ends of introns, leading to exon skipping or cryptic splice-site activation. A...

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Autori principali: Divina, Petr, Kvitkovicova, Andrea, Buratti, Emanuele, Vorechovsky, Igor
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2947103/
https://ncbi.nlm.nih.gov/pubmed/19142208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.257
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