Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene
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 impa...
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| Main Authors: | , , , , , , |
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| Format: | Book |
| Published: |
SAGE Publishing,
2020-07-01T00:00:00Z.
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