Associated Papers
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sochorcova L et al.
British Journal of Haematology, 2023
Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review.
Lo Riso L et al.
Genes, 2022
New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis.
Pasquier F et al.
Haematologica, 2018
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
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