New pathogenic mechanisms induced by germline erythropoietin receptor mutations in primary erythrocytosis
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DOI: 10.3324/haematol.2017.176370
Abstract: Primary familial and congenital polycythemia is characterized by erythropoietin hypersensitivity of erythroid progenitors due to germline nonsense or frameshift mutations in the erythropoietin receptor gene. All mutations so far described lead to the truncation of… read more here.
Keywords: receptor; phenotype; erythropoietin receptor; erythropoietin hypersensitivity ... See more keywords