TY  - GEN
AU  - Lo Riso, Laura
AU  - Vargas-Parra, Gardenia
AU  - Navarro, Gemma
AU  - Arenillas, Leonor
AU  - Fernández-Ibarrondo, Lierni
AU  - Robredo, Beatriz
AU  - Ballester Ruiz, Maria del Carmen
AU  - López Andrade, Bernardo
AU  - Pérez-Montaña, Albert
AU  - Sampol Mayol, Antonia
AU  - Florensa, Lourdes
AU  - Besses, Carles
AU  - Duran Pastor, Maria Antonia
AU  - Bellosillo, Beatriz
PY  - 2022
DO  - 10.3390/genes13101686
UR  - https://hdl.handle.net/20.500.12105/23450
AB  - Primary familial and congenital polycythemia is a rare disease characterized by an increase in red cell mass that may be due to pathogenic variants in the EPO receptor (EPOR) gene. To date, 33 genetic variants have been reported to be associated. We...
LA  - eng
PB  - Multidisciplinary Digital Publishing Institute (MDPI)
KW  - Humans
KW  - Polycythemia
KW  - Receptors, Erythropoietin
TI  - Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review
TY  - research article
ER  -