A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia

Br J Haematol. 2018 Jun;181(6):843-847. doi: 10.1111/bjh.14710. Epub 2017 Apr 25.
No abstract available

Keywords: GFI1B; CD34 expression; congenital macrothrombocytopenia; giant platelets; megakaryocyte progenitor differentiation.

Publication types

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

MeSH terms

  • Female
  • Humans
  • Middle Aged
  • Mutation*
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / genetics*
  • Thrombocytopenia / congenital*
  • Thrombocytopenia / pathology
  • Zinc Fingers

Substances

  • GFI1B protein, human
  • Proto-Oncogene Proteins
  • Repressor Proteins