volume 10, issue 1, P10-12 2017
DOI: 10.15252/emmm.201708450
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Abstract: Thrombopoietin (THPO) has been well characterized as a key regulator of platelet production. THPO also plays an important role in the maintenance and regulation of hematopoietic stem cells (HSCs). In this issue of EMBO Molecular Medicine, Pecci et al (2018) describe a newly identified homozygous mutation in THPO causing congenital amegakaryocytic thrombocytopenia, a disease characterized by a significant impairment in platelet production with rapid onset of aplastic anemia within a few years. The paper nicely …

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