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Loss of exon identity is a common mechanism of human inherited disease
It is widely accepted that at least 10% of all mutations causing human inherited disease disrupt splice-site consensus sequences. In contrast to splice-site mutations, the role of auxiliary cis-acting elements such as exonic splicing enhancers (ESE) and exonic splicing silencers (ESS) in human inher...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cold Spring Harbor Laboratory Press
2011
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3202274/ https://ncbi.nlm.nih.gov/pubmed/21750108 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.118638.110 |
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