A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis

Maurizio Martini, Luciana Teofili, Luigi Maria Larocca, Tonia Cenci, Lorenza Torti, Giuseppe Leone, Fiorina Giona, Massimiliano Rea, Robin Foà

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Medicine & Life Sciences