title: Primary familial congenital erythrocytosis: two novel EPOR mutations found in Spain.
authors.affiliation: Laboratório de Anemias Congénitas e Hematologia Molecular, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal. celeste.bento@chc.min-saude.pt.
authors.forename: C
authors.initials: C
authors.lastname: Bento
authors.forename: H
authors.initials: H
authors.lastname: Almeida
authors.forename: C
authors.initials: C
authors.lastname: Fernandez-Lago
authors.forename: M L
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008297:Male; D009154:Mutation; D011086:Polycythemia / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D017467:Receptors, Erythropoietin / Q000235:genetics*; D013030:Spain
chemical_list: D003062:Codon; D017467:Receptors, Erythropoietin