Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <I>GFI1B</I> germline mutation

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel <I>GFI1B</I> germline mutation

GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we identified a novel GFI1B variant (c.648+5G>A), w...

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Main Authors: Michela Faleschini, Nicole Papa, Marie-Christine Morel-Kopp, Caterina Marconi, Tania Giangregorio, Federica Melazzini, Valeria Bozzi, Marco Seri, Patrizia Noris, Alessandro Pecci, Anna Savoia, Roberta Bottega
Format: Article
Language:English
Published: Ferrata Storti Foundation 2021-01-01
Series:Haematologica
Online Access:https://haematologica.org/article/view/10150

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https://haematologica.org/article/view/10150

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