New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia

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Bibliographic Details
Published in:British journal of haematology 2019-03, Vol.184 (5), p.855-858
Main Authors: Ferrari, Silvia, Lombardi, Anna M., Cortella, Irene, Businaro, Maria A., Bertomoro, Antonella, Di Pasquale, Irene, Fabris, Fabrizio
Format: Article
Language:English
Subjects:
Bernard-Soulier Syndrome - genetics
Female
glycoprotein
GP1BB
Hematology
Heterozygote
Humans
Male
Mutation
new variation
Platelet Glycoprotein GPIb-IX Complex - genetics
platelets
thrombocytopenia
Online Access:Get full text
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ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.15176