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
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
Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain.
Bento C et al.
International Journal of Laboratory Hematology, 2013
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Bento C et al.
European Journal of Haematology, 2013
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