Citations for
1ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
Percy MJ, Rumi E.
Am J Hematol 84(1):46-54. Review. 2009
2ECYT1, ECYT2, ECYT3, ECYT4, EGLN1, EPAS1, EPOR, VHL
A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.
Al-Sheikh M, Mazurier E, Gardie B, Casadevall N, Galactéros F, Goossens M, Wajcman H, Préhu C, Ugo V.
Haematologica 93(7):1072-5. Epub 2008 May 19. 2008
3ECYT3, EGLN1
PHD2 mutation and congenital erythrocytosis with paraganglioma.
Ladroue C, Carcenac R, Leporrier M, Gad S, Le Hello C, Galateau-Salle F, Feunteun J, Pouysségur J, Richard S, Gardie B.
N Engl J Med 359(25):2685-92. 2008
4ECYT3, EGLN1
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.
Percy MJ, Zhao Q, Flores A, Harrison C, Lappin TR, Maxwell PH, McMullin MF, Lee FS.
Proc Natl Acad Sci U S A 103(3):654-9. Epub 2006 Jan 9. 2006