Associated Papers
Increased RhoA pathway activation downstream of αIIbβ3/SRC contributes to heterozygous Bernard Soulier syndrome.
Lordier L et al.
Haematologica, 2025
Bernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.
Kaya Z
Seminars in Thrombosis and Hemostasis, 2025
A novel missense mutation in a leucine-rich repeat of GPIbα in a Bernard-Soulier variant reduces shear-dependent adherence on von Willebrand factor.
Proulle V et al.
British Journal of Haematology, 2019
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Trizuljak J et al.
Platelets, 2018
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A et al.
Human Mutation, 2014
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