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References

These sources were used to develop the Genetics Home Reference gene summary on the EPAS1 gene.

Beall CM, Cavalleri GL, Deng L, Elston RC, Gao Y, Knight J, Li C, Li JC, Liang Y, McCormack M, Montgomery HE, Pan H, Robbins PA, Shianna KV, Tam SC, Tsering N, Veeramah KR, Wang W, Wangdui P, Weale ME, Xu Y, Xu Z, Yang L, Zaman MJ, Zeng C, Zhang L, Zhang X, Zhaxi P, Zheng YT. Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders. Proc Natl Acad Sci U S A. 2010 Jun 22;107(25):11459-64. doi: 10.1073/pnas.1002443107. Epub 2010 Jun 7. PubMed citation
Entrez Gene
Furlow PW, Percy MJ, Sutherland S, Bierl C, McMullin MF, Master SR, Lappin TR, Lee FS. Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline. J Biol Chem. 2009 Apr 3;284(14):9050-8. doi: 10.1074/jbc.M808737200. Epub 2009 Feb 10. PubMed citation
Lee FS, Percy MJ. The HIF pathway and erythrocytosis. Annu Rev Pathol. 2011;6:165-92. doi: 10.1146/annurev-pathol-011110-130321. Review. PubMed citation
McMullin MF. HIF pathway mutations and erythrocytosis. Expert Rev Hematol. 2010 Feb;3(1):93-101. doi: 10.1586/ehm.09.68. Review. PubMed citation
Percy MJ, Chung YJ, Harrison C, Mercieca J, Hoffbrand AV, Dinardo CL, Santos PC, Fonseca GH, Gualandro SF, Pereira AC, Lappin TR, McMullin MF, Lee FS. Two new mutations in the HIF2A gene associated with erythrocytosis. Am J Hematol. 2012 Apr;87(4):439-42. doi: 10.1002/ajh.23123. Epub 2012 Feb 24. PubMed citation
Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. Am J Hematol. 2009 Jan;84(1):46-54. doi: 10.1002/ajh.21313. Review. PubMed citation
Percy MJ. Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway. Ulster Med J. 2008 May;77(2):86-8. Review. PubMed citation
Perrotta S, Della Ragione F. The HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 May 1;358(18):1966; author reply 1966-7. PubMed citation
Simonson TS, McClain DA, Jorde LB, Prchal JT. Genetic determinants of Tibetan high-altitude adaptation. Hum Genet. 2012 Apr;131(4):527-33. doi: 10.1007/s00439-011-1109-3. Epub 2011 Nov 9. Review. PubMed citation
van Wijk R, Sutherland S, Van Wesel AC, Huizinga EG, Percy MJ, Bierings M, Lee FS. Erythrocytosis associated with a novel missense mutation in the HIF2A gene. Haematologica. 2010 May;95(5):829-32. doi: 10.3324/haematol.2009.017582. Epub 2009 Dec 8. PubMed citation


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