Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene
Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene
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SAGE Publishing
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English
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SAGE Publishing
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Hypoxia-inducible factor-1 (HIF-1) is a key regulator of erythropoiesis. In this article, we report 3 novel mutations, P378S, A385T, and G206C, on the EGLN1 gene encoding the negative HIF-1α regulator prolyl hydroxylase domain-2 (PHD2) in 3 patients with isolated erythrocytosis. These mutations impair PHD2 protein stability and partially reduce PHD...
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Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene
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TN_cdi_doaj_primary_oai_doaj_org_article_82cbfb1b9ad8418a96aacb49c56cc27f
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_82cbfb1b9ad8418a96aacb49c56cc27f
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E-ISSN
2324-7096
DOI
10.1177/2324709620947256
