Mutations of RUNX1 in families with inherited thrombocytopenia

Am J Hematol. 2017 Jun;92(6):E86-E88. doi: 10.1002/ajh.24703. Epub 2017 Mar 24.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Blood Platelets / ultrastructure
  • Cell Size
  • Child
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / chemistry
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Female
  • Frameshift Mutation*
  • Genes, Dominant
  • Heterozygote
  • Humans
  • Introns / genetics
  • Leukemia, Myeloid, Acute / genetics
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Protein Domains / genetics
  • RNA Splice Sites / genetics
  • Sequence Deletion
  • Thrombocythemia, Essential / blood
  • Thrombocythemia, Essential / genetics*
  • Thrombopoietin / blood
  • Transcriptional Activation / genetics
  • Young Adult

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RNA Splice Sites
  • RUNX1 protein, human
  • Thrombopoietin