Condition: ERYTHROCYTOSIS, FAMILIAL, 5


rs11976235 in EPO gene and ERYTHROCYTOSIS, FAMILIAL, 5 PMID 29514032 2018 A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.

PMID 27651169 2016 Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.