A mis-sense mutation (Tyr88 to Cys) in the platelet membrane glycoprotein Ibβ gene affects GPIb/IX complex expression. Bernard-Soulier syndrome in the homozygous form and giant platelets in the hetrozygous form - Kurokawa, Y; Ishida, F; Kamijo, T (Thromb Haemost, 2001)
et al.