Associated Papers
Autosomal Dominant Erythrocytosis Caused by Non-Renal Erythropoietin (EPO) Due to EPO c.-136 G>A Germline Mutation.
Lanikova L et al.
American Journal of Hematology, 2026
Identification of Hepatic-like EPO as a Cause of Polycythemia.
Martin L et al.
The New England Journal of Medicine, 2025
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 2022
36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_II-layout.pdf
Heritable disorders of oxygen sensing.
Semenza GL
American Journal of Medical Genetics. Part A, 2021
Heritable disorders of oxygen sensing.
Semenza GL
American Journal of Medical Genetics. Part A, 2021
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.
Vočanec D et al.
International Journal of Laboratory Hematology, 2019
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
Zmajkovic J et al.
The New England Journal of Medicine, 2018
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