Recurrent mutation Asn45 → Ser of glycoprotein IX in Bernard—Soulier syndrome

This publication has 10 references indexed in Scilit:

• Bernard-Soulier syndrome in two Swedish families: Effect of DDAVP on bleeding time
  European Journal of Haematology, 2009
• Heterogenous Expression of Glycoprotein lb, IX and V in Platelets from Two Patients with Bernard-Soulier Syndrome Caused by Different Genetic Abnormalities
  Thrombosis and Haemostasis, 1995
• Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX
  Blood, 1994
• Cloning and characterization of the gene encoding the human platelet glycoprotein V. A member of the leucine-rich glycoprotein family cleaved during thrombin-induced platelet activation.
  Journal of Biological Chemistry, 1993
• Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome
  Blood, 1993
• Human platelet glycoprotein IX: an adhesive prototype of leucine-rich glycoproteins with flank-center-flank structures.
  Proceedings of the National Academy of Sciences, 1989
• The alpha and beta chains of human platelet glycoprotein Ib are both transmembrane proteins containing a leucine-rich amino acid sequence.
  Proceedings of the National Academy of Sciences, 1988
• Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium
  The American Journal of Medicine, 1974