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Results 1 - 10 of 24 for "Erythrocytosis," "familial," 5
  1. Familial erythrocytosis 
    ... M, McMullin MF. Clinical utility gene card for: familial erythrocytosis. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.252. Epub 2012 ...
    https://medlineplus.gov/genetics/condition/familial-erythrocytosis - Genetics
  2. EPAS1 gene 
    ... red blood cells and blood vessels. At least five mutations in the EPAS1 gene have been found to cause familial erythrocytosis, an inherited condition characterized by an increased number ...
    https://medlineplus.gov/genetics/gene/epas1 - Genetics
  3. Hypermanganesemia with dystonia 
    ... Testing Registry: Hypermanganesemia with dystonia 2 ... Jan;64:278-283. doi: 10.1016/j.neuro.2017.07.030. Epub 2017 Aug 5. Citation on PubMed Mukhtiar K, Ibrahim S, Tuschl ...
    https://medlineplus.gov/.../hypermanganesemia-with-dystonia - Genetics
  4. EGLN1 gene 
    ... protein 6 ZMYND6 Tests of EGLN1 ... mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene. Blood Cells Mol Dis. 2008 Mar-Apr;40(2):160-5. doi: 10.1016/j.bcmd.2007.07.017. ...
    https://medlineplus.gov/genetics/gene/egln1 - Genetics
  5. EPOR gene 
    ... the EPOR gene have been found to cause familial erythrocytosis, an inherited condition characterized by an increased number ... an elevated risk of abnormal blood clots. When familial erythrocytosis results from EPOR gene mutations, it is often ...
    https://medlineplus.gov/genetics/gene/epor - Genetics
  6. Polycythemia vera 
    ... R, Nicolazzi MA, Porfidia A, Di Gennaro L. Polycythemia vera. Intern Emerg Med. 2010 Oct;5(5):375-84. doi: 10.1007/s11739-010- ...
    https://medlineplus.gov/genetics/condition/polycythemia-vera - Genetics
  7. Cold Stimulation Test: MedlinePlus Medical Test 
    ... Familydoctor.org [Internet]. Leawood (KS): American Academy of Family Physicians; c2021. Polycythemia Vera; [updated 2018 Oct 29; cited 2021 Jan ... 3 screens]. Available from: ... Academy of Family Physicians; c2021. Raynaud's Disease; [updated 2019 Jul 25; ...
    https://medlineplus.gov/lab-tests/cold-stimulation-test - Medical Tests
  8. SLC30A10 gene 
    ... so excess amounts of this element may underlie polycythemia. More About This Health Condition DKFZp547M236 HMDPC solute carrier family 30, member 10 zinc transporter 10 ZnT-10 ...
    https://medlineplus.gov/genetics/gene/slc30a10 - Genetics
  9. Essential thrombocythemia 
    ... RL. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009 May;23(5):905-11. doi: 10.1038/leu.2009.47. ...
    https://medlineplus.gov/genetics/condition/essential-thrombocythemia - Genetics
  10. TET2 gene 
    ... RL. TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis. Leukemia. 2009 May;23(5):905-11. doi: 10.1038/leu.2009.47. ...
    https://medlineplus.gov/genetics/gene/tet2 - Genetics
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