Associated Papers
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Busonero F et al.
British Journal of Haematology, 2020
High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island.
Fiore M 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
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