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Volumn 112, Issue 12, 1999, Pages 451-453

Prevalence of the HFE Cys282Tyr mutation of haemochromatosis gene in individuals from Cantabria, Spain, and in patients with genetic haemochromatosis;Prevalencia de la mutación Cys282Tyr del gen de la hemocromatosis en Cantabria y en los pacientes diagnosticados de hemocromatosis hereditaria

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; PRIMER DNA; TYROSINE;

EID: 0033541320     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (26)

References (10)
  • 1
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    • Hemochromatosis and the iron overload syndromes
    • Zakim D, Boyer TD, editores. Filadelfia: WB Saunders
    • Bacon BR, Tavill AS. Hemochromatosis and the iron overload syndromes. En: Zakim D, Boyer TD, editores. Hepatology: a textbook of liver disease. Filadelfia: WB Saunders, 1996; 1.439-1.472.
    • (1996) Hepatology: A Textbook of Liver Disease , pp. 1439-1472
    • Bacon, B.R.1    Tavill, A.S.2
  • 2
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 3
    • 0030866458 scopus 로고    scopus 로고
    • Diagnosis and management of hemochromatosis
    • Bacon BR. Diagnosis and management of hemochromatosis. Gastroenterology 1997; 113: 995-999.
    • (1997) Gastroenterology , vol.113 , pp. 995-999
    • Bacon, B.R.1
  • 6
    • 0030963287 scopus 로고    scopus 로고
    • Prevalence of hereditary hemochromatosis in a massachusetts corporation: Is a Celtic origen a risk factor?
    • Smith BN, Kantrowitz W, Grace ND, Greeberg MS, Patton TJ, Ookubo R et al. Prevalence of hereditary hemochromatosis in a massachusetts corporation: is a Celtic origen a risk factor? Hepatology 1997; 25: 1.439-1.446.
    • (1997) Hepatology , vol.25 , pp. 1439-1446
    • Smith, B.N.1    Kantrowitz, W.2    Grace, N.D.3    Greeberg, M.S.4    Patton, T.J.5    Ookubo, R.6
  • 7
    • 0023721932 scopus 로고    scopus 로고
    • Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: A collaborative study
    • Estivill X, Farral M, Williamson R, Ferrari M, Seia M, Giunta AM et al. Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet 1998; 43: 23-28.
    • (1998) Am J Hum Genet , vol.43 , pp. 23-28
    • Estivill, X.1    Farral, M.2    Williamson, R.3    Ferrari, M.4    Seia, M.5    Giunta, A.M.6
  • 8
    • 0030722984 scopus 로고    scopus 로고
    • A genetic defect of an iron pump on chromosome 20 is postulated to cause human hemochromatosis
    • Peuschel KE. A genetic defect of an iron pump on chromosome 20 is postulated to cause human hemochromatosis. Med Hypotheses 1997; 49: 417-419.
    • (1997) Med Hypotheses , vol.49 , pp. 417-419
    • Peuschel, K.E.1
  • 9
    • 0030864560 scopus 로고    scopus 로고
    • Clinical and family studies in genetic hemochromatosis: Microsatellite and HFE studies in five atipical families
    • Adams PC, Campio ML, Gandon G, LeGall JY, David V, Jouanolle AM. Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atipical families. Hepatology 1997; 26: 986-990.
    • (1997) Hepatology , vol.26 , pp. 986-990
    • Adams, P.C.1    Campio, M.L.2    Gandon, G.3    LeGall, J.Y.4    David, V.5    Jouanolle, A.M.6
  • 10
    • 85101728766 scopus 로고    scopus 로고
    • Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
    • Roberts AG, Whatler SD, Morgan R, Lawless S, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349: 275-278.
    • (1997) Lancet , vol.349 , pp. 275-278
    • Roberts, A.G.1    Whatler, S.D.2    Morgan, R.3    Lawless, S.4    Worwood, M.5    Elder, G.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.