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Two novel missense mutations in EPOR gene causes erythrocytosis in two unrelated patients.
Peroni, Edoardo; Bertozzi, Irene; Gherlinzoni, Filippo; Stefani, Piero M; Lombardi, AnnaMaria; Biagetti, Giacomo; Fabris, Fabrizio; Randi, Maria L.
Afiliación
  • Peroni E; Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
  • Bertozzi I; Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
  • Gherlinzoni F; Haematology Unit, Ca' Foncello Hospital, Treviso, Italy.
  • Stefani PM; Haematology Unit, Ca' Foncello Hospital, Treviso, Italy.
  • Lombardi A; Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
  • Biagetti G; Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
  • Fabris F; Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
  • Randi ML; Clinica Medica 1, Department of Medicine - DIMED, University of Padua, Padua, Italy.
Br J Haematol ; 180(6): 908-911, 2018 03.
Article en En | MEDLINE | ID: mdl-27982410

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Policitemia / Receptores de Eritropoyetina / Mutación Missense Tipo de estudio: Etiology_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Br J Haematol Año: 2018 Tipo del documento: Article País de afiliación: Italia

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Policitemia / Receptores de Eritropoyetina / Mutación Missense Tipo de estudio: Etiology_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Br J Haematol Año: 2018 Tipo del documento: Article País de afiliación: Italia