Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia

Leuk Lymphoma. 2017 Aug;58(8):1963-1967. doi: 10.1080/10428194.2016.1265118. Epub 2016 Dec 8.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Blood Platelets / metabolism*
  • Blood Platelets / ultrastructure
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Exome Sequencing
  • Female
  • Haploinsufficiency
  • Humans
  • Immunophenotyping
  • Mutation*
  • Nonsense Mediated mRNA Decay
  • Pedigree
  • Phenotype*
  • RNA Splicing
  • Symptom Assessment
  • Thrombocytopenia / blood
  • Thrombocytopenia / diagnosis
  • Thrombocytopenia / genetics*
  • Thrombocytopenia / metabolism*

Substances

  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human