A single F153Sβ3 mutation causes constitutive integrin αIIbβ3 activation in a variant form of Glanzmann thrombasthenia

This report identifies a novel variant form of the inherited bleeding disorder Glanzmann thrombasthenia, exhibiting only mild bleeding in a physically active individual. The platelets cannot aggregate ex vivo with physiologic agonists of activation, although microfluidic analysis with whole blood di...

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Detalles Bibliográficos
Autores principales: Koukouritaki, Sevasti B., Thinn, Aye Myat M., Ashworth, Katrina J., Fang, Juan, Slater, Haley S., Du, Lily M., Nguyen, Huong Thi Thu, Pillois, Xavier, Nurden, Alan T., Ng, Christopher J., Di Paola, Jorge, Zhu, Jieqing, Wilcox, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society of Hematology 2023
Materias:
Thrombosis and Hemostasis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10338211/
https://www.ncbi.nlm.nih.gov/pubmed/36884296
http://dx.doi.org/10.1182/bloodadvances.2022009495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10338211/
https://www.ncbi.nlm.nih.gov/pubmed/36884296
http://dx.doi.org/10.1182/bloodadvances.2022009495

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