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Demonstration of novel gain-of-function mutations of αIIbβ3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype

Integrin αIIbβ3 is indispensable for normal hemostasis, but its role for thrombopoiesis is still controversial. Recently, αIIb and β3 mutations have been identified in patients with congenital macrothrombocytopenia. We analyzed three unrelated Japanese families with congenital macrothrombocytopenia....

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Detalles Bibliográficos
Autores principales: Kashiwagi, Hirokazu, Kunishima, Shinji, Kiyomizu, Kazunobu, Amano, Yoshiro, Shimada, Hiroyuki, Morishita, Masashi, Kanakura, Yuzuru, Tomiyama, Yoshiaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865572/
https://www.ncbi.nlm.nih.gov/pubmed/24498605
http://dx.doi.org/10.1002/mgg3.9