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Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia (CAMT) is a recessive disorder characterized by severe reduction of megakaryocytes and platelets at birth, which evolves toward bone marrow aplasia in childhood. CAMT is mostly caused by mutations in MPL (CAMT-MPL), the gene encoding the receptor of thromb...
Autores principales: | Capaci, Valeria, Adam, Etai, Bar-Joseph, Ifat, Faleschini, Michela, Pecci, Alessandro, Savoia, Anna |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Fondazione Ferrata Storti
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10153527/ https://www.ncbi.nlm.nih.gov/pubmed/36226497 http://dx.doi.org/10.3324/haematol.2022.281392 |
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