Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption

Transcripts containing premature termination codons (PTCs) can be subject to nonsense-associated alternative splicing (NAS). Two models have been evoked to explain this, scanning and splice motif disruption. The latter postulates that exonic cis motifs, such as exonic splice enhancers (ESEs), are di...

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Detalles Bibliográficos
Autores principales: Abrahams, Liam, Savisaar, Rosina, Mordstein, Christine, Young, Bethan, Kudla, Grzegorz, Hurst, Laurence D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Computational Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8464065/
https://www.ncbi.nlm.nih.gov/pubmed/34469537
http://dx.doi.org/10.1093/nar/gkab750

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8464065/
https://www.ncbi.nlm.nih.gov/pubmed/34469537
http://dx.doi.org/10.1093/nar/gkab750

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