Mutations of RUNX1 in families with inherited thrombocytopenia

Daniela De Rocco, Federica Melazzini, Caterina Marconi, Alessandro Pecci, Roberta Bottega, Chiara Gnan, Flavia Palombo, Paola Giordano, Maria Susanna Coccioli, Ana C Glembotsky, Paula G Heller, Marco Seri, Anna Savoia, Patrizia Noris

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)E86-E88
JournalAmerican Journal of Hematology
Issue number6
Publication statusPublished - Jun 2017


  • Adult
  • Blood Platelets/ultrastructure
  • Cell Size
  • Child
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit/chemistry
  • 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
  • Thrombopoietin/blood
  • Transcriptional Activation/genetics
  • Young Adult

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