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Volumn 20, Issue 5, 2012, Pages 593-

Clinical utility gene card for: Familial erythrocytosis

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9;

EID: 84859922493     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.252     Document Type: Short Survey
Times cited : (12)

References (17)
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    • Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis
    • Percy MJ, Rumi E: Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis. Am J Hematol 2009; 84: 46-54.
    • (2009) Am J Hematol , vol.84 , pp. 46-54
    • Percy, M.J.1    Rumi, E.2
  • 3
    • 13244275298 scopus 로고    scopus 로고
    • Congenital polycythemias/erythrocytoses
    • Gordeuk VR, Stockton DW, Prchal JT: Congenital polycythemias/ erythrocytoses. Haematologica 2005; 90: 109-116. (Pubitemid 40193761)
    • (2005) Haematologica , vol.90 , Issue.1 , pp. 109-116
    • Gordeuk, V.R.1    Stockton, D.W.2    Prchal, J.T.3
  • 8
    • 77952317870 scopus 로고    scopus 로고
    • Erythrocytosis associated with a novel missense mutation in the HIF2A gene
    • van Wijk R, Sutherland S, Van Wesel AC et al: Erythrocytosis associated with a novel missense mutation in the HIF2A gene. Haematologica 2010; 95: 829-832.
    • (2010) Haematologica , vol.95 , pp. 829-832
    • Van Wijk, R.1    Sutherland, S.2    Van Wesel, A.C.3
  • 9
    • 38049173572 scopus 로고    scopus 로고
    • A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
    • Percy MJ, Furlow PW, Lucas GS et al: A gain-of-function mutation in the HIF2A gene in familial erythrocytosis. N Engl J Med 2008; 358: 162-168.
    • (2008) N Engl J Med , vol.358 , pp. 162-168
    • Percy, M.J.1    Furlow, P.W.2    Lucas, G.S.3
  • 10
    • 70349124623 scopus 로고    scopus 로고
    • Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis
    • Percy MJ, Butt NN, Crotty GM et al: Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis. Haematologica 2009; 94: 1321-1322.
    • (2009) Haematologica , vol.94 , pp. 1321-1322
    • Percy, M.J.1    Butt, N.N.2    Crotty, G.M.3
  • 11
    • 60749109270 scopus 로고    scopus 로고
    • A new alpha-globin variant with increased oxygen affinity in a Swiss family: Hb Frauenfeld [alpha 138(H21)Ser→Phe, TCC>TTC (alpha 2)]
    • Hochuli M, Zurbriggen K, Schmid M et al: A new alpha-globin variant with increased oxygen affinity in a Swiss family: Hb Frauenfeld [alpha 138(H21)Ser→Phe, TCC>TTC (alpha 2)]. Hemoglobin 2009; 33: 54-58.
    • (2009) Hemoglobin , vol.33 , pp. 54-58
    • Hochuli, M.1    Zurbriggen, K.2    Schmid, M.3
  • 12
    • 33847049431 scopus 로고    scopus 로고
    • High oxygen affinity hemoglobin variant in a Canadian family: Hb Bunbury [beta94(FG1)Asp→Asn, GAC→AAC]
    • Walker L, Eng B, McFarlane A, Waye JS: High oxygen affinity hemoglobin variant in a Canadian family: Hb Bunbury [beta94(FG1)Asp→Asn, GAC→AAC]. Hemoglobin 2007; 31: 101-113.
    • (2007) Hemoglobin , vol.31 , pp. 101-113
    • Walker, L.1    Eng, B.2    McFarlane, A.3    Waye, J.S.4
  • 14
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    • The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis
    • Percy MJ, Jones FG, Green AR, Reilly JT, McMullin MF: The incidence of the JAK2 V617F mutation in patients with idiopathic erythrocytosis. Haematologica 2006; 91: 413-414.
    • (2006) Haematologica , vol.91 , pp. 413-414
    • Percy, M.J.1    Jones, F.G.2    Green, A.R.3    Reilly, J.T.4    McMullin, M.F.5
  • 17
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    • Clinical and hematological presentation of children and adolescents with polycythemia vera
    • Cario H, McMullin MF, Pahl HL: Clinical and hematological presentation of children and adolescents with polycythemia vera. Ann Hematol 2009; 88: 713-719.
    • (2009) Ann Hematol , vol.88 , pp. 713-719
    • Cario, H.1    McMullin, M.F.2    Pahl, H.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.