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Article

A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.

Haematologica - 1 Jul 2008

Martini Maurizio, Teofili Luciana, Cenci Tonia, Giona Fiorina, Torti Lorenza, Rea Massimiliano, Foà Robin, Leone Giuseppe, Larocca Luigi Maria

Abstract excerpt

HIF2A transcription factor plays a central role in the regulation of the hypoxia responding pathway in mammalian cells, by modulating erythropoiesis and angiogenesis. Molecular alterations of oxygen sensing pathway constituents are implicated in hereditary erythrocytosis. Here we show that 2 memb...

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Share to Basic Helix-Loop-Helix Transcription Factors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18508787
DOI: 10.3324/haematol.13210

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18508787-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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