title: Two novel missense mutations in EPOR gene causes erythrocytosis in two unrelated patients.
authors.affiliation: Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Peroni
authors.affiliation: Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Bertozzi
authors.affiliation: Haematology Unit, Ca' Foncello Hospital, Treviso, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Gherlinzoni
authors.affiliation: Haematology Unit, Ca' Foncello Hospital, Treviso, Italy.
authors.forename: Piero M
authors.initials: PM
authors.lastname: Stefani
authors.affiliation: Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
authors.forename: AnnaMaria
authors.initials: A
authors.lastname: Lombardi
authors.affiliation: Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Biagetti
authors.affiliation: Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Fabris
authors.affiliation: Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
authors.forename: Maria L
authors.initials: ML
authors.lastname: Randi
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D011086:Polycythemia / Q000235:genetics*; D017467:Receptors, Erythropoietin / Q000235:genetics*
chemical_list: D017467:Receptors, Erythropoietin
keywords: EPOR mutations; congenital erythrocytosis; erythropoietin