Identification of two novel epor gene variants in primary familial polycythemia: case report and literature review

HIGHLIGHTS

  • who: Laura Lo Riso et al. from the , Palma de Mallorca, Spain have published the research: Identification of Two Novel EPOR Gene Variants in Primary Familial Polycythemia: Case Report and Literature Review, in the Journal: Genes 2022, 13, 1686. of 16/09/2022
  • what: The authors report two cases of erythrocytosis in which the diagnosis of PV and acquired secondary polycythemia had been ruled out that were further studied for mutations in the EPOR gene.

SUMMARY

    Erythrocytosis is the increase in the number of erythrocytes in peripheral blood. Among all types . . .

     

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