A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

Haematologica. 2018 Jun;103(6):e259-e263. doi: 10.3324/haematol.2017.180927. Epub 2018 Feb 8.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Amino Acid Substitution
  • Biomarkers
  • Blood Platelets / metabolism
  • Blood Platelets / ultrastructure
  • DNA Mutational Analysis
  • Erythrocyte Indices
  • Female
  • Gain of Function Mutation*
  • Genes, Dominant*
  • Genetic Association Studies
  • Humans
  • Integrin beta3 / genetics*
  • Loss of Function Mutation*
  • Pedigree
  • Phenotype
  • Platelet Function Tests
  • Thrombasthenia / diagnosis*
  • Thrombasthenia / genetics*

Substances

  • Biomarkers
  • ITGB3 protein, human
  • Integrin beta3