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Thrombocytopenia and CD34 expression is decoupled from -granule deficiency with mutation of the first GFI1B zinc finger

Journal of Thrombosis and Haemostasis Sep 13, 2017

Rabbolini DJ, et al. - Experts in this study planned to ascertain the functional and phenotypic consequences of GFI1B variants disrupting non-DNA-binding zinc-finger domains. Data demonstrated an association between disruption of GFI1B non-DNA-binding zinc-finger 1 and mild to moderate thrombocytopenia without α-granule deficiency or bleeding symptomatology. It indicated that the site of GFI1B mutation had important phenotypic implications. Moreover, platelet CD34 expression appeared to be a common feature of perturbed GFI1B function.
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