A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia

Br J Haematol. 2020 Dec;191(5):e124-e128. doi: 10.1111/bjh.17090. Epub 2020 Nov 20.
No abstract available

Keywords: GP1BB; bernard-Soulier syndrome; functional studies; genetic analysis; platelet count; platelet glycoproteins.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Female
  • Founder Effect*
  • Humans
  • Italy
  • Male
  • Mutation*
  • Platelet Glycoprotein GPIb-IX Complex / genetics*
  • Thrombocytopenia / genetics*

Substances

  • Platelet Glycoprotein GPIb-IX Complex
  • adhesion receptor