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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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Библиографические подробности
Опубликовано в: :Mol Genet Genomic Med
Главные авторы: Olthof, Anouk M., Rasmussen, Jeffrey S., Campeau, Philippe M., Kanadia, Rahul N.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2020
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507305/
https://ncbi.nlm.nih.gov/pubmed/32573973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1374
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