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U2AF1 Mutations Alter Sequence Specificity of pre-mRNA Binding and Splicing

We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of patients with de novo myelodysplastic syndromes (MDS). Although the role of U2AF1 as an accessory factor in the U2 snRNP is well established, it is not ye...

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Detalles Bibliográficos
Autores principales: Okeyo-Owuor, Theresa, White, Brian S., Chatrikhi, Rakesh, Mohan, Dipika R., Kim, Sanghyun, Griffith, Malachi, Ding, Li, Ketkar-Kulkarni, Shamika, Hundal, Jasreet, Laird, Kholiswa M., Kielkopf, Clara L., Ley, Timothy J., Walter, Matthew J., Graubert, Timothy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391984/
https://www.ncbi.nlm.nih.gov/pubmed/25311244
http://dx.doi.org/10.1038/leu.2014.303

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