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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...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2007
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1934990/ https://www.ncbi.nlm.nih.gov/pubmed/17576681 http://dx.doi.org/10.1093/nar/gkm402 |