Associated Papers
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
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
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