Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37

Haematologica. 2017 Sep;102(9):e375-e378. doi: 10.3324/haematol.2017.167957. Epub 2017 May 26.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alternative Splicing
  • Blood Platelets / pathology*
  • Erythropoiesis
  • Female
  • Humans
  • Loss of Function Mutation
  • Pedigree
  • Protein Isoforms / genetics
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / genetics*
  • Syndrome
  • Thrombocytopenia

Substances

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