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Hemizygosity for the Gene Encoding Glycoprotein Ib beta (GPIbβ) Is Not Responsible for Macrothrombocytopenia and Bleeding in Patients with 22q11 Deletion Syndrome

BACKGROUND AND OBJECTIVES: Macrothrombocytopenia and bleeding are frequently associated with 22q11 deletion syndrome (22q11DS). GPIBB, which encodes the glycoprotein Ib beta (GPIbβ) subunit of GPIb-IX-V, is commonly deleted in 22q11DS. Absence of functional GPIb-IX-V causes Bernard Soulier Syndrome,...

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Udgivet i:J Thromb Haemost
Main Authors: Zwifelhofer, N. M. J., Bercovitz, R. S., Weik, L. A., Moroi, A., LaRose, S., Newman, P.J., Newman, D. K.
Format: Artigo
Sprog:Inglês
Udgivet: 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6410711/
https://ncbi.nlm.nih.gov/pubmed/30549403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jth.14357
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