The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard–Soulier syndrome, with a missense variant in GP1BB

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Bibliographic Details
Published in:British journal of haematology 2024-08, Vol.205 (2), p.742-745
Main Authors: Ferrari, Silvia, Regazzo, Daniela, Cerbo, Anna, Cortella, Irene, Bertomoro, Antonella, Simioni, Paolo
Format: Article
Language:English
Subjects:
Bernard-Soulier syndrome
Bernard-Soulier Syndrome - genetics
Female
Frameshift Mutation
Homozygote
Humans
Male
Mutation, Missense
Platelet Glycoprotein GPIb-IX Complex - genetics
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ISSN:0007-1048
1365-2141
1365-2141
DOI:10.1111/bjh.19593