Associated Papers
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
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
34355501 (PubMed )
Supplement: JTH-19-2612-s002.pdf
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F et al.
British Journal of Haematology, 2020
Autosomal dominant macrothrombocytopenia caused by a rare GPIBB variant: The importance of DNA sequencing.
De Kesel PM et al.
International Journal of Laboratory Hematology, 2020
Recent advances in inherited platelet disorders.
Pluthero FG et al.
Current Opinion in Hematology, 2019
A new case of heterozygous variant of the GP1BB gene responsible for macrothrombocytopenia.
Babuty A et al.
British Journal of Haematology, 2019
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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