메뉴 건너뛰기




Volumn 22, Issue 2, 1996, Pages 187-194

Mutation analysis in hereditary hemochromatosis

Author keywords

HLA; iron; storage

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEMOCHROMATOSIS; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

EID: 0030221927     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1996.0027     Document Type: Article
Times cited : (390)

References (18)
  • 1
    • 0017158302 scopus 로고
    • Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis
    • 1. Simon M, Bourel R, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut 17:332-334, 1976.
    • (1976) Gut , vol.17 , pp. 332-334
    • Simon, M.1    Bourel, R.2    Fauchet, R.3    Genetet, B.4
  • 2
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemachromatosis
    • 2. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemachromatosis. Nature Genetics 13:399-408, 1996.
    • (1996) Nature Genetics , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 4
    • 0030130997 scopus 로고    scopus 로고
    • Localization of the hemochromatosis disease gene: Linkage disequilibrium analysis using an American patient collection
    • 4. Seese NK, Venditti CP, Chorney KA, et al. Localization of the hemochromatosis disease gene: Linkage disequilibrium analysis using an American patient collection. Blood Cells Mol Dis 22:36-46, 1996.
    • (1996) Blood Cells Mol Dis , vol.22 , pp. 36-46
    • Seese, N.K.1    Venditti, C.P.2    Chorney, K.A.3
  • 5
    • 0029766094 scopus 로고    scopus 로고
    • Woman's meat, a man's poison
    • 5. Little P. Woman's meat, a man's poison. Nature 382:494-495, 1996.
    • (1996) Nature , vol.382 , pp. 494-495
    • Little, P.1
  • 6
    • 0029995808 scopus 로고    scopus 로고
    • Localization of the hemochromatosis disease gene: Linkage disequilibrium analysis using an American patient collection -Commentary
    • 6. Beutler E, West C. Localization of the hemochromatosis disease gene: Linkage disequilibrium analysis using an American patient collection -Commentary. Blood Cells Mol Dis 22:47-48, 1996.
    • (1996) Blood Cells Mol Dis , vol.22 , pp. 47-48
    • Beutler, E.1    West, C.2
  • 7
    • 0030045484 scopus 로고    scopus 로고
    • Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: Implications for mapping the hemochromatosis gene (HFE)
    • 7. Gandon G, Jouanolle AM, Chauvel B, et al. Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: Implications for mapping the hemochromatosis gene (HFE). Hum Genet 97:103-113, 1996.
    • (1996) Hum Genet , vol.97 , pp. 103-113
    • Gandon, G.1    Jouanolle, A.M.2    Chauvel, B.3
  • 8
    • 0030023375 scopus 로고    scopus 로고
    • A new highly polymorphic marker in the 5′ untranslated region of HLA-F shows strong allelic association with haemochromatosis
    • 8. Raha-Chowdhury R, Bowen DJ, Worwood M. A new highly polymorphic marker in the 5′ untranslated region of HLA-F shows strong allelic association with haemochromatosis. Hum Genet 97:228-231, 1996.
    • (1996) Hum Genet , vol.97 , pp. 228-231
    • Raha-Chowdhury, R.1    Bowen, D.J.2    Worwood, M.3
  • 9
    • 19244376894 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Generation of a transcription map within a refined and extended map of the HLA class I region
    • 9. Totaro A, Rommens JM, Grifa A, et al. Hereditary hemochromatosis: Generation of a transcription map within a refined and extended map of the HLA class I region. Genomics 31:319-326, 1996.
    • (1996) Genomics , vol.31 , pp. 319-326
    • Totaro, A.1    Rommens, J.M.2    Grifa, A.3
  • 10
    • 0029890565 scopus 로고    scopus 로고
    • The frequency of the haemochromatosis-associated genotype D6S265-1:D6S105-8 in blood donors
    • 10. Worwood M, Dorak MT, Nicklin S, Stone C, Pointon J, Darke C. The frequency of the haemochromatosis-associated genotype D6S265-1:D6S105-8 in blood donors. Br J Haematol 93:838-840, 1996.
    • (1996) Br J Haematol , vol.93 , pp. 838-840
    • Worwood, M.1    Dorak, M.T.2    Nicklin, S.3    Stone, C.4    Pointon, J.5    Darke, C.6
  • 11
    • 0028878293 scopus 로고
    • Haplotype analysis in Australian hemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
    • 11. Jazwinska EC, Pyper WR, Burt MJ, et al. Haplotype analysis in Australian hemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet 56:428-433, 1995.
    • (1995) Am J Hum Genet , vol.56 , pp. 428-433
    • Jazwinska, E.C.1    Pyper, W.R.2    Burt, M.J.3
  • 12
    • 0029670047 scopus 로고    scopus 로고
    • 2 Knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism
    • 2 Knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism. Proc Natl Acad Sci USA 93:1529-1534, 1996.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 1529-1534
    • Rothenberg, B.E.1    Voland, J.R.2
  • 14
    • 0025740120 scopus 로고
    • Screening for haemochromatosis: Prevalence among Danish blood donors
    • 14. Wiggers P, Dalhoj J, Kiær H, et al. Screening for haemochromatosis: Prevalence among Danish blood donors. J Intern Med 230:265-270, 1991.
    • (1991) J Intern Med , vol.230 , pp. 265-270
    • Wiggers, P.1    Dalhoj, J.2    Kiær, H.3
  • 15
    • 0029001119 scopus 로고
    • Iron status in young Danish men and women: A population survey comprising 548 individuals
    • 15. Milman N, Clausen JO, Jordal R. Iron status in young Danish men and women: A population survey comprising 548 individuals. Ann Hematol 70:215-221, 1995.
    • (1995) Ann Hematol , vol.70 , pp. 215-221
    • Milman, N.1    Clausen, J.O.2    Jordal, R.3
  • 16
    • 0023180105 scopus 로고
    • Idiopathic haemochromatosis. Family studies and results of a pilot prevalence survey
    • 16. Ballot D, Meyer TE, Bothwell TH, et al. Idiopathic haemochromatosis. Family studies and results of a pilot prevalence survey. S Afr Med J 11:639-642, 1987.
    • (1987) S Afr Med J , vol.11 , pp. 639-642
    • Ballot, D.1    Meyer, T.E.2    Bothwell, T.H.3
  • 17
    • 0023008654 scopus 로고
    • Prevalence of hemochromatosis in a random sample of asymptomatic men
    • 17. Elliott R, Lin BP, Dent OF, Tait A, Smith CI. Prevalence of hemochromatosis in a random sample of asymptomatic men. Aust N Z J Med 16:491-495, 1986.
    • (1986) Aust N Z J Med , vol.16 , pp. 491-495
    • Elliott, R.1    Lin, B.P.2    Dent, O.F.3    Tait, A.4    Smith, C.I.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.