Associated Papers
Bernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.
Kaya Z
Seminars in Thrombosis and Hemostasis, 2025
Trp207Gly in platelet glycoprotein Ibalpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome.
Rosenberg N et al.
Journal of Thrombosis and Haemostasis : Jth, 2007
Genetic abnormalities of Bernard-Soulier syndrome.
Kunishima S et al.
International Journal of Hematology, 2002
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