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Disrupted minor intron splicing is prevalent in Mendelian disorders

BACKGROUND: Splicing is crucial for proper gene expression, and is predominately executed by the major spliceosome. Conversely, 722 introns in 699 human minor intron‐containing genes (MIGs) are spliced by the minor spliceosome. Splicing of these minor introns is disrupted in diseases caused by patho...

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Detalles Bibliográficos
Autores principales: Olthof, Anouk M., Rasmussen, Jeffrey S., Campeau, Philippe M., Kanadia, Rahul N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507305/
https://www.ncbi.nlm.nih.gov/pubmed/32573973
http://dx.doi.org/10.1002/mgg3.1374