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The integrity of the U12 snRNA 3′ stem–loop is necessary for its overall stability

Disruption of minor spliceosome functions underlies several genetic diseases with mutations in the minor spliceosome-specific small nuclear RNAs (snRNAs) and proteins. Here, we define the molecular outcome of the U12 snRNA mutation (84C>U) resulting in an early-onset form of cerebellar ataxia. To...

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Detalles Bibliográficos
Autores principales: Norppa, Antto J, Frilander, Mikko J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7968993/
https://www.ncbi.nlm.nih.gov/pubmed/33577674
http://dx.doi.org/10.1093/nar/gkab048