title: Dysregulation of the HIF pathway due to VHL mutation causing severe erythrocytosis and pulmonary arterial hypertension.
authors: Jonathan
authors: J
authors: Bond
authors: Daniel P
authors: DP
authors: Gale
authors: Thomas
authors: T
authors: Connor
authors: Stuart
authors: S
authors: Adams
authors: Jasper
authors: J
authors: de Boer
authors: Duncan M
authors: DM
authors: Gascoyne
authors: Owen
authors: O
authors: Williams
authors: Patrick H
authors: PH
authors: Maxwell
authors: Philip J
authors: PJ
authors: Ancliff
mesh_terms: D004252:DNA Mutational Analysis; D065627:Familial Primary Pulmonary Hypertension; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications / Q000235:genetics; D051793:Hypoxia-Inducible Factor 1 / Q000378:metabolism* / Q000502:physiology; D007223:Infant; D008297:Male; D009154:Mutation / Q000502:physiology; D011086:Polycythemia / Q000150:complications / Q000235:genetics*; D012720:Severity of Illness Index; D015398:Signal Transduction / Q000235:genetics / Q000502:physiology; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics* / Q000502:physiology
chemical_list: D051793:Hypoxia-Inducible Factor 1; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human