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Molecular mechanisms of bleeding disorderassociated GFI1B(Q287*) mutation and its affected pathways in megakaryocytes and platelets

Dominant-negative mutations in the transcription factor Growth Factor Independence-1B (GFI1B), such as GFI1B(Q287*), cause a bleeding disorder characterized by a plethora of megakaryocyte and platelet abnormalities. The deregulated molecular mechanisms and pathways are unknown. Here we show that bot...

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Detalles Bibliográficos
Autores principales: van Oorschot, Rinske, Hansen, Marten, Koornneef, Johanna M., Marneth, Anna E., Bergevoet, Saskia M., van Bergen, Maaike G.J.M., van Alphen, Floris P.J., van der Zwaan, Carmen, Martens, Joost H.A., Vermeulen, Michiel, Jansen, Pascal W.T.C., Baltissen, Marijke P.A., Gorkom, Britta A.P. Laros-van, Janssen, Hans, Jansen, Joop H., von Lindern, Marieke, Meijer, Alexander B., van den Akker, Emile, van der Reijden, Bert A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601108/
https://www.ncbi.nlm.nih.gov/pubmed/30655368
http://dx.doi.org/10.3324/haematol.2018.194555