| 1 | ECYT4, EPAS1
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| Two new mutations in the HIF2A gene associated with erythrocytosis.
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| 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.
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| Am J Hematol 87(4):439-42. doi: 10.1002/ajh.23123. Epub 2012 Feb 24. No abstract available.
2012
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| 2 | ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
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| Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
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| Percy MJ, Rumi E.
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| Am J Hematol 84(1):46-54. Review. 2009
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| 3 | ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
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| A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.
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| Al-Sheikh M, Mazurier E, Gardie B, Casadevall N, Galactéros F, Goossens M, Wajcman H, Préhu C, Ugo V.
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| Haematologica 93(7):1072-5. Epub 2008 May 19. 2008
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| 4 | ECYT4, EPAS1
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| Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway.
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| Percy MJ.
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| Ulster Med J 77(2):86-8. Review.
2008
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| 5 | ECYT4, EPAS1
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| A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.
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| Martini M, Teofili L, Cenci T, Giona F, Torti L, Rea M, Foà R, Leone G, Larocca LM.
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| Haematologica 93(7):1068-71. Epub 2008 May 27.
2008
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| 6 | ECYT4, EPAS1
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| A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
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| Percy MJ, Furlow PW, Lucas GS, Li X, Lappin TR, McMullin MF, Lee FS.
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| N Engl J Med 358(2):162-8.PMID: 18184961 2008
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| 7 | ECYT4, EPAS1
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| Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
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| Percy MJ, Beer PA, Campbell G, Dekker AW, Green AR, Oscier D, Rainey MG, van Wijk R, Wood M, Lappin TR, McMullin MF, Lee FS.
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| Blood 111(11):5400-2. Epub 2008 Mar 31.PMID: 18378852 2008
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