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Volumn 93, Issue 8, 1999, Pages 2502-2505

HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HEMOCHROMATOSIS; HUMAN; HUMAN CELL; IRON METABOLISM; MISSENSE MUTATION; MOLECULAR CLONING; PRIORITY JOURNAL; RECEPTOR AFFINITY;

EID: 0033561342     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v93.8.2502.408k27_2502_2505     Document Type: Article
Times cited : (373)

References (23)
  • 5
    • 0031002910 scopus 로고    scopus 로고
    • Immunochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract
    • Parkkila S, Waheed A, Britton RS, Feder JN, Tsuchihashi Z, Schatzman RC, Bacon BR, Sly WS: Immunochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA 94:2534, 1997
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 2534
    • Parkkila, S.1    Waheed, A.2    Britton, R.S.3    Feder, J.N.4    Tsuchihashi, Z.5    Schatzman, R.C.6    Bacon, B.R.7    Sly, W.S.8
  • 14
    • 0031450438 scopus 로고    scopus 로고
    • Haemochromatosis, HFE and genetic complexity
    • Risch N: Haemochromatosis, HFE and genetic complexity. Nat Genet 17:375, 1997
    • (1997) Nat Genet , vol.17 , pp. 375
    • Risch, N.1
  • 15
    • 0030732164 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
    • Waheed A, Parkkila S, Zhou XY, Tomatsu S, Tsuchihashi Z, Feder JN, Schatzman RC, Britton RS, Bacon BR, Sly WS: Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with β2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc Natl Acad Sci USA 94:12384, 1997
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 12384
    • Waheed, A.1    Parkkila, S.2    Zhou, X.Y.3    Tomatsu, S.4    Tsuchihashi, Z.5    Feder, J.N.6    Schatzman, R.C.7    Britton, R.S.8    Bacon, B.R.9    Sly, W.S.10
  • 17
    • 0030827084 scopus 로고    scopus 로고
    • The significance of the 187G (H63D) mutation in hemochromatosis
    • Beutler E: The significance of the 187G (H63D) mutation in hemochromatosis. Am J Hum Genet 61:762, 1997
    • (1997) Am J Hum Genet , vol.61 , pp. 762
    • Beutler, E.1
  • 18
    • 0030878126 scopus 로고    scopus 로고
    • HLA-H and associated proteins in patients with hemochromatosis
    • Beutler E, West C, Gelbart T: HLA-H and associated proteins in patients with hemochromatosis. Mol Med 3:397, 1997
    • (1997) Mol Med , vol.3 , pp. 397
    • Beutler, E.1    West, C.2    Gelbart, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.