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Volumn 89, Issue 3, 2004, Pages 359-360

Homozygosity for transferrin receptor-2 Y250X mutation induces early iron overload

Author keywords

Iron overload; Transferrin receptor 2; Y250X mutation

Indexed keywords

IRON; TRANSFERRIN RECEPTOR; TRANSFERRIN RECEPTOR 2; UNCLASSIFIED DRUG;

EID: 1942445099     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (48)

References (10)
  • 4
    • 0036242163 scopus 로고    scopus 로고
    • Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
    • Girelli D, Bozzini C, Roetto A, Alberti F, Daraio F, Colombari R, et al. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002;122:1295-302.
    • (2002) Gastroenterology , vol.122 , pp. 1295-1302
    • Girelli, D.1    Bozzini, C.2    Roetto, A.3    Alberti, F.4    Daraio, F.5    Colombari, R.6
  • 8
    • 20244388240 scopus 로고    scopus 로고
    • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis
    • Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, et al. Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 2002;33:21-2.
    • (2002) Nat Genet , vol.33 , pp. 21-22
    • Roetto, A.1    Papanikolaou, G.2    Politou, M.3    Alberti, F.4    Girelli, D.5    Christakis, J.6
  • 9
    • 0037111572 scopus 로고    scopus 로고
    • Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum
    • Deaglio S, Capobianco A, Cali A, Bellora F, Alberti F, Righi L, et al. Structural, functional, and tissue distribution analysis of human transferrin receptor-2 by murine monoclonal antibodies and a polyclonal antiserum. Blood 2002;100:3782-9.
    • (2002) Blood , vol.100 , pp. 3782-3789
    • Deaglio, S.1    Capobianco, A.2    Cali, A.3    Bellora, F.4    Alberti, F.5    Righi, L.6
  • 10
    • 0037564038 scopus 로고    scopus 로고
    • Expression of hepcidin in hereditary hemochromatosis: Evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron
    • Gehrke SG, Kulaksiz H, Herrmann T, Riedel HD, Bents K, Veltkamp C, et al. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to serum transferrin saturation and non-transferrin-bound iron. Blood 2003;102:371-6.
    • (2003) Blood , vol.102 , pp. 371-376
    • Gehrke, S.G.1    Kulaksiz, H.2    Herrmann, T.3    Riedel, H.D.4    Bents, K.5    Veltkamp, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.