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Molecular mechanisms of bleeding disorderassociated GFI1BQ287* mutation and its affected pathways in megakaryocytes and platelets

Dominant-negative mutations in the transcription factor Growth Factor Independence-1B (GFI1B), such as GFI1BQ287*, 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 both...

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Hlavní autoři: Rinske van Oorschot, Marten Hansen, Johanna M. Koornneef, Anna E. Marneth, Saskia M. Bergevoet, Maaike G.J.M. van Bergen, Floris P.J. van Alphen, Carmen van der Zwaan, Joost H.A. Martens, Michiel Vermeulen, Pascal W.T.C. Jansen, Marijke P.A. Baltissen, Britta A.P. Laros-van Gorkom, Hans Janssen, Joop H. Jansen, Marieke von Lindern, Alexander B. Meijer, Emile van den Akker, Bert A. van der Reijden
Médium: Artigo
Jazyk:Inglês
Vydáno: Ferrata Storti Foundation 2019-07-01
Edice:Haematologica
On-line přístup:https://haematologica.org/article/view/8976
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