Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.
Gale
Daniel P
DP
Harten
Sarah K
SK
Reid
Cecil D L
CD
Tuddenham
Edward G D
EG
Maxwell
Patrick H
PH
D000293:Adolescent; D000328:Adult; D000368:Aged; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011086:Polycythemia / Q000235:genetics*; D000099162:Endothelial PAS Domain-Containing Protein 1
D051792:Basic Helix-Loop-Helix Proteins; D000099162:Endothelial PAS Domain-Containing Protein 1