Pathology

 mutation in the GP1BA gene in autosomal recessive Bernard-Soulier syndrome (MIM.231200)

 Platelet-type von Willebrand disease (MIM.177820) (pseudo-von Willebrand disease)

References

 Adam F, Bouton MC, Huisse MG, Jandrot-Perrus M. Thrombin interaction with platelet membrane glycoprotein Ib alpha. Trends Mol Med. 2003 Nov;9(11):461-4. PMID: #14604821#