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
GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Barozzi S et al.
Annals of Hematology, 2023
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F et al.
British Journal of Haematology, 2020
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
[Diagnosis and molecular pathogenesis of congenital thrombocytopenia].
Kunishima S
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2014
Inherited thrombocytopenias frequently diagnosed in adults.
Balduini CL et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
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