The K666N mutation in SF3B1 is associated with increased progression of MDS and distinct RNA splicing
W. Brian Dalton, Eric Helmenstine, Lisa Pieterse, Bing Li, Christopher D. Gocke, Joshua Donaldson, Zhijian Xiao, Lukasz P. Gondek, Gabriel Ghiaur, Ivana Gojo, B. Douglas Smith, Mark J. Levis, Amy E. DeZern
Abstract
Key Points The K666N mutation of SF3B1 has distinct clinicopathologic features in MDS. The K666N mutation of SF3B1 has a distinct RNA splicing profile.
Topics & Concepts
RNA splicingMutationRNABiologyGeneticsAlternative splicingGeneExonAcute Myeloid Leukemia ResearchImmunodeficiency and Autoimmune DisordersRNA modifications and cancer