High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island

Br J Haematol. 2020 May;189(3):e67-e71. doi: 10.1111/bjh.16479. Epub 2020 Jan 30.
No abstract available

Keywords: Bernard-Soulier syndrome; GP1BB; Leucin-rich repeat domain; Reunion Island; platelet GPIbβ.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Bernard-Soulier Syndrome / epidemiology
  • Bernard-Soulier Syndrome / genetics*
  • Child
  • Child, Preschool
  • Female
  • France / epidemiology
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Mutation
  • Platelet Glycoprotein GPIb-IX Complex / genetics*
  • Prevalence
  • Reunion
  • Young Adult

Substances

  • Platelet Glycoprotein GPIb-IX Complex
  • adhesion receptor