Associated Papers
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
Proteomic landscapes of inherited platelet disorders with different etiologies.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F et al.
British Journal of Haematology, 2020
Management of haemostasis during dental extraction in a Bernard-Soulier syndrome child.
Sharma S et al.
Bmj Case Reports, 2019
Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.
Boeckelmann D et al.
Blood Cells, Molecules & Diseases, 2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Sivapalaratnam S et al.
Blood, 2017
Spectrum of the mutations in Bernard-Soulier syndrome.
Savoia A et al.
Human Mutation, 2014
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