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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 |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2019
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| 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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