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Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.
Tashi T, Scott Reading N, Wuren T, Zhang X, Moore LG, Hu H, Tang F, Shestakova A, Lorenzo F, Burjanivova T, Koul P, Guchhait P, Wittwer CT, Julian CG, Shah B, Huff CD, Gordeuk VR, Prchal JT, Ge R. Tashi T, et al. Among authors: lorenzo f. J Mol Med (Berl). 2017 Jun;95(6):665-670. doi: 10.1007/s00109-017-1519-3. Epub 2017 Feb 23. J Mol Med (Berl). 2017. PMID: 28233034
Molecular basis of two novel mutations found in type I methemoglobinemia.
Lorenzo FR 5th, Phillips JD, Nussenzveig R, Lingam B, Koul PA, Schrier SL, Prchal JT. Lorenzo FR 5th, et al. Blood Cells Mol Dis. 2011 Apr 15;46(4):277-81. doi: 10.1016/j.bcmd.2011.01.005. Epub 2011 Feb 24. Blood Cells Mol Dis. 2011. PMID: 21349748 Free PMC article.
500 results