Associated Papers
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.
Lo Riso L et al.
Genes, 2022
Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.
Ratarat C et al.
International Journal of Hematology, 2019
A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.
Oskarsson GR et al.
Communications Biology, 2018
Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis.
Rives S et al.
Haematologica, 2007
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