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A Sardinian founder mutation in glycoprotein Ib platelet subunit beta ( GP1BB ) that impacts thrombocytopenia
Author(s) -
Busonero Fabio,
Steri Maristella,
Orrù Valeria,
Sole Gabriella,
Olla Stefania,
Marongiu Michele,
Maschio Andrea,
Sidore Carlo,
Lai Sandra,
Mulas Antonella,
Zoledziewska Magdalena,
Floris Matteo,
Pala Mauro,
Forabosco Paola,
Asunis Isadora,
Pitzalis Maristella,
Deidda Francesca,
Masala Marco,
Caria Cristian Antonio,
Barella Susanna,
Abecasis Goncalo R.,
Schlessinger David,
Sanna Serena,
Fiorillo Edoardo,
Cucca Francesco
Publication year - 2020
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.17090
Subject(s) - ristocetin , platelet , glycoprotein ib , von willebrand factor , bernard–soulier syndrome , population , platelet glycoprotein gpib ix complex , platelet membrane glycoprotein , genetics , von willebrand disease , bleeding diathesis , biology , missense mutation , compound heterozygosity , allele , immunology , medicine , mutation , gene , environmental health