A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor

Br J Haematol. 2019 Sep;186(6):e184-e187. doi: 10.1111/bjh.16068. Epub 2019 Jul 1.
No abstract available

Keywords: Bernard Soulier syndrome; adhesion; leucine-rich repeat; platelet glycoprotein Ib alpha; von Willebrand factor.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bernard-Soulier Syndrome* / genetics
  • Bernard-Soulier Syndrome* / metabolism
  • Child, Preschool
  • Humans
  • Male
  • Mutation, Missense*
  • Platelet Adhesiveness / genetics*
  • Platelet Glycoprotein GPIb-IX Complex* / genetics
  • Platelet Glycoprotein GPIb-IX Complex* / metabolism
  • Repetitive Sequences, Amino Acid
  • von Willebrand Factor* / genetics
  • von Willebrand Factor* / metabolism

Substances

  • Platelet Glycoprotein GPIb-IX Complex
  • adhesion receptor
  • von Willebrand Factor