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pro vyhledávání: '"Sandra Hofmann MD, PhD"'
Autor:
Joseph A. Moore MD, Maimon E. Hubbi MD, PhD, Chenliang Wang PhD, Yingfei Wang PhD, Weibo Luo PhD, Sandra Hofmann MD, PhD, Siayareh Rambally MD
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 8 (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 regulator prolyl hydroxylase domain-2 (PHD2) in 3 patients
Externí odkaz:
https://doaj.org/article/82cbfb1b9ad8418a96aacb49c56cc27f