Condition: Erythrocytosis, Familial, 3


rs119476044 in EGLN1 gene and Erythrocytosis, Familial, 3 PMID 22274579 2012 Clinical utility gene card for: familial erythrocytosis.

PMID 17579185 2007 A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.

PMID 16407130 2006 A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.