Article

Novel <i>EGLN1</i> variants identified in patients with erythrocytosis: a functional study

2026-06-14

Abstract excerpt

<h4>ABSTRACT</h4> Erythrocytosis, a disorder with increased erythrocyte production, has a heterogeneous aetiology, including rare congenital types linked to dysregulation of the oxygen-sensing pathway. Variants in the EGLN1 gene, encoding the prolyl hydroxylase that regulates hypoxia-inducible factor (HIF) stability, are associated with familial erythrocytosis type 3 (ECYT3). In patients with idiopathic erythroc...

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Literature Corpus work: 0ecbef09-72c6-59df-8721-ea339d1debbf
DOI: 10.64898/2026.06.12.731943

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