Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

Haematologica. 2019 Jun;104(6):e260-e264. doi: 10.3324/haematol.2018.207712. Epub 2018 Dec 20.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alleles
  • Disease Susceptibility*
  • Gene Expression
  • Genetic Association Studies
  • Genotype
  • Hemorrhagic Disorders / blood
  • Hemorrhagic Disorders / diagnosis
  • Hemorrhagic Disorders / etiology*
  • Humans
  • Mutation, Missense*
  • Pedigree
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins / metabolism
  • Repressor Proteins / genetics*
  • Repressor Proteins / metabolism

Substances

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