Associated Papers
Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.
Ferrari S et al.
International Journal of Laboratory Hematology, 2026
Bernard-Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic Management.
Kaya Z
Seminars in Thrombosis and Hemostasis, 2025
Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.
Zhang S et al.
Hematology (amsterdam, Netherlands), 2024
A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report.
Ma J et al.
Experimental and Therapeutic Medicine, 2021
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Trizuljak J et al.
Platelets, 2018
Gene of the issue: GP1BA gene mutations associated with bleeding.
Othman M et al.
Platelets, 2017
Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias.
Favier R et al.
British Journal of Haematology, 2015
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A et al.
Human Mutation, 2014
Genetics of familial forms of thrombocytopenia.
Balduini CL et al.
Human Genetics, 2012
Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant.
Vettore S et al.
Haematologica, 2008
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