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), whic...

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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Ferrata Storti Foundation 2021-01-01
Edice:	Haematologica
On-line přístup:	https://haematologica.org/article/view/10150
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