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Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B 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), wh...
Autores principales: | Faleschini, Michela, Papa, Nicole, Morel-Kopp, Marie-Christine, Marconi, Caterina, Giangregorio, Tania, Melazzini, Federica, Bozzi, Valeria, Seri, Marco, Noris, Patrizia, Pecci, Alessandro, Savoia, Anna, Bottega, Roberta |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Fondazione Ferrata Storti
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8719102/ https://www.ncbi.nlm.nih.gov/pubmed/33472357 http://dx.doi.org/10.3324/haematol.2020.267328 |
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