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.