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Results 1 - 5 of 5 for "Erythrocytosis," "familial," 3
  1. VHL gene 
    ... In: Am J Hum Genet. 2004 Mar;74(3):598. Citation on PubMed or Free article on PubMed Central Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. Am J Hematol. 2009 Jan;84( ...
    https://medlineplus.gov/genetics/gene/vhl - Genetics
  2. EGLN1 gene 
    ... TR, Maxwell PH, McMullin MF, Lee FS. A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis. Proc Natl Acad Sci U S A. 2006 Jan 17;103(3):654-9. doi: 10.1073/pnas.0508423103. Epub ...
    https://medlineplus.gov/genetics/gene/egln1 - Genetics
  3. EPAS1 gene 
    ... S, Della Ragione F. The HIF2A gene in familial erythrocytosis. N Engl J Med. 2008 May 1;358(18):1966; ... Epub 2011 Nov 9. Citation on PubMed van ...
    https://medlineplus.gov/genetics/gene/epas1 - Genetics
  4. EPOR gene 
    ... A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene. Haematologica. ... la Chapelle A. Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state. ...
    https://medlineplus.gov/genetics/gene/epor - Genetics
  5. 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