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

Haematologica. 2013 Sep;98(9):e105-7. doi: 10.3324/haematol.2013.090506. Epub 2013 Jul 5.
No abstract available

Keywords: BMFS; MCD; MDS; SF3B1; mutations.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Anemia, Aplastic
  • Anemia, Sideroblastic / diagnosis
  • Anemia, Sideroblastic / genetics*
  • Bone Marrow Diseases
  • Bone Marrow Failure Disorders
  • Female
  • Hemoglobinuria, Paroxysmal / diagnosis
  • Hemoglobinuria, Paroxysmal / genetics*
  • Humans
  • Male
  • Mastocytosis / diagnosis
  • Mastocytosis / genetics*
  • Mutation / genetics*
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / genetics
  • Phenotype
  • Phosphoproteins / genetics*
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear / genetics*

Substances

  • Phosphoproteins
  • RNA Splicing Factors
  • Ribonucleoprotein, U2 Small Nuclear
  • SF3B1 protein, human