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Results 1 - 10 of 23 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. Cold Stimulation Test: MedlinePlus Medical Test 
    ... 3 screens]. Available from: ... [about 5 screens]. Available from: https://www.hopkinsmedicine.org/health/ ...
    https://medlineplus.gov/lab-tests/cold-stimulation-test - Medical Tests
  5. 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
  6. 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
  7. 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
  8. Hemoglobin Test: MedlinePlus Medical Test 
    ... MD): U.S. Department of Health and Human Services; Polycythemia Vera; [2022 Jun; cited 2024 Jul 24]; [about 5 screens]. Available from: https://rarediseases.info.nih.gov/ ...
    https://medlineplus.gov/lab-tests/hemoglobin-test - Medical Tests
  9. 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
  10. 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
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