Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

Abstract Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which evolves into generalized bone marrow aplasia during childhood. Although CAMT is genetically heterogeneous, mutations of MPL, the gene enc...

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Autori principali:	Alessandro Pecci, Iman Ragab, Valeria Bozzi, Daniela De Rocco, Serena Barozzi, Tania Giangregorio, Heba Ali, Federica Melazzini, Mohamed Sallam, Caterina Alfano, Annalisa Pastore, Carlo L Balduini, Anna Savoia
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Springer Nature 2017-11-01
Serie:	EMBO Molecular Medicine
Soggetti:	congenital amegakaryocytic thrombocytopenia MPL mutation romiplostim thrombopoietin
Accesso online:	https://doi.org/10.15252/emmm.201708168
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