Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene.
2020
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 regula...
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