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Impact of cancer-associated mutations in Hsh155/SF3b1 HEAT repeats 9-12 on pre-mRNA splicing in Saccharomyces cerevisiae

Mutations in the splicing machinery have been implicated in a number of human diseases. Most notably, the U2 small nuclear ribonucleoprotein (snRNP) component SF3b1 has been found to be frequently mutated in blood cancers such as myelodysplastic syndromes (MDS). SF3b1 is a highly conserved HEAT repe...

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Detalles Bibliográficos
Autores principales: Kaur, Harpreet, Groubert, Brent, Paulson, Joshua C., McMillan, Sarah, Hoskins, Aaron A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7176370/
https://www.ncbi.nlm.nih.gov/pubmed/32320410
http://dx.doi.org/10.1371/journal.pone.0229315