title: SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype.
authors.forename: Valeria
authors.initials: V
authors.lastname: Visconte
authors.forename: Ali
authors.initials: A
authors.lastname: Tabarroki
authors.forename: Heesun J
authors.initials: HJ
authors.lastname: Rogers
authors.forename: Edy
authors.initials: E
authors.lastname: Hasrouni
authors.forename: Fabiola
authors.initials: F
authors.lastname: Traina
authors.forename: Hideki
authors.initials: H
authors.lastname: Makishima
authors.forename: Betty K
authors.initials: BK
authors.lastname: Hamilton
authors.forename: Yang
authors.initials: Y
authors.lastname: Liu
authors.forename: Christine
authors.initials: C
authors.lastname: O'Keefe
authors.forename: Alan
authors.initials: A
authors.lastname: Lichtin
authors.forename: Leonard
authors.initials: L
authors.lastname: Horwitz
authors.forename: Mikkael A
authors.initials: MA
authors.lastname: Sekeres
authors.forename: Fred H
authors.initials: FH
authors.lastname: Hsieh
authors.forename: Ramon V
authors.initials: RV
authors.lastname: Tiu
mesh_terms: D000328:Adult; D000368:Aged; D000741:Anemia, Aplastic; D000756:Anemia, Sideroblastic / Q000175:diagnosis / Q000235:genetics*; D001855:Bone Marrow Diseases; D000080983:Bone Marrow Failure Disorders; D005260:Female; D006457:Hemoglobinuria, Paroxysmal / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008415:Mastocytosis / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics*
chemical_list: D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear; C112491:SF3B1 protein, human
keywords: BMFS; MCD; MDS; SF3B1; mutations