Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome

Ann Hematol. 2015 Dec;94(12):2069-71. doi: 10.1007/s00277-015-2473-1. Epub 2015 Aug 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Bernard-Soulier Syndrome* / blood
  • Bernard-Soulier Syndrome* / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Platelet Glycoprotein GPIb-IX Complex / genetics*
  • Tetraspanin 29 / blood*

Substances

  • Platelet Glycoprotein GPIb-IX Complex
  • Tetraspanin 29