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Article

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.

The New England journal of medicine - 10 Jan 2008

Percy Melanie J, Furlow Paul W, Lucas Guy S, Li Xiping, Lappin Terence R J, McMullin Mary Frances, Lee Frank S

Abstract excerpt

Hypoxia-inducible factor (HIF) alpha, which has three isoforms, is central to the continuous balancing of the supply and demand of oxygen throughout the body. HIF-alpha is a transcription factor that modulates a wide range of processes, including erythropoiesis, angiogenesis, and cellular metabolism. We describe a family with erythrocytosis and a mutation in the HIF2A gene, which encodes the HIF-2alpha protein....

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Identifiers

PMID: 18184961
DOI: 10.1056/NEJMoa073123
PMCID: PMC2295209

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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