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The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts

Among the most common genetic alterations in the myelodysplastic syndromes (MDS) are mutations in the spliceosome gene SF3B1. Such mutations induce specific RNA missplicing events, directly promote ring sideroblast (RS) formation, generally associate with more favorable prognosis, and serve as a pre...

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Detalles Bibliográficos
Autores principales: Choi, In Young, Ling, Jonathan, Zhang, Jian, Helmenstine, Eric, Walter, Wencke, Bergman, Riley, Philippe, Céline, Manley, James, Rouault-Pierre, Kevin, Li, Bing, Wiseman, Daniel, Ouseph, Madhu, Bernard, Elsa, Li, Xiao, Haferlach, Torsten, Fazal, Salman, Jain, Tania, Gocke, Christopher, DeZern, Amy, Dalton, W. Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Journal Experts 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120771/
https://www.ncbi.nlm.nih.gov/pubmed/37090662
http://dx.doi.org/10.21203/rs.3.rs-2802265/v1