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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2021
Materias:
Article
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

Internet

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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