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Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization

Despite a growing number of splicing mutations found in hereditary diseases, utilization of aberrant splice sites and their effects on gene expression remain challenging to predict. We compiled sequences of 346 aberrant 5′splice sites (5′ss) that were activated by mutations in 166 human disease gene...

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Hlavní autoři: Buratti, Emanuele, Chivers, Martin, Královičová, Jana, Romano, Maurizio, Baralle, Marco, Krainer, Adrian R., Vořechovský, Igor
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2007
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1934990/
https://ncbi.nlm.nih.gov/pubmed/17576681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkm402
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