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Volumn 164, Issue 39, 2002, Pages 4545-4547

Prevalence of haemochromatosis-associated mutations in the HFE gene in the Danish population;Frekvensen af hæmokromatoseassocierede mutationer i hæmokromatosegenet i den danske befolkning

Author keywords

[No Author keywords available]

Indexed keywords

HFE PROTEIN; HFE PROTEIN, HUMAN; HLA ANTIGEN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN;

EID: 0037163449     PISSN: 00415782     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (18)
  • 2
    • 0028559402 scopus 로고
    • Clinical spectrum and management of haemochromatosis
    • Niederau C, Stremmel W, Strohmeyer G. Clinical spectrum and management of haemochromatosis. Clin Haematology 1994; 7: 881-901.
    • (1994) Clin Haematology , vol.7 , pp. 881-901
    • Niederau, C.1    Stremmel, W.2    Strohmeyer, G.3
  • 3
    • 0022368621 scopus 로고
    • Survival and causes of death in cirrhotic and noncirrhotic patients with primary hemochromatosis
    • Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch H, Strohmeyer G. Survival and causes of death in cirrhotic and noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985; 313: 1256-62.
    • (1985) N Engl J Med , vol.313 , pp. 1256-1262
    • Niederau, C.1    Fischer, R.2    Sonnenberg, A.3    Stremmel, W.4    Trampisch, H.5    Strohmeyer, G.6
  • 6
    • 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
  • 8
    • 0005600868 scopus 로고    scopus 로고
    • A simple genetic test identifies 90 percent of UK patients with haemochromatosis
    • UK Haemochromatosis Consortium. A simple genetic test identifies 90 percent of UK patients with haemochromatosis. Gut 1997; 41: 841-4.
    • (1997) Gut , vol.41 , pp. 841-844
  • 11
    • 0032986271 scopus 로고    scopus 로고
    • High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression
    • Distante S, Berg JP, Lande K, Haug E, Bell H. High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. Scand J Gastroenterol 1999; 34: 529-34.
    • (1999) Scand J Gastroenterol , vol.34 , pp. 529-534
    • Distante, S.1    Berg, J.P.2    Lande, K.3    Haug, E.4    Bell, H.5
  • 13
    • 6844240223 scopus 로고    scopus 로고
    • Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis
    • Baty D, Kwiatkowski AT, Mechan D, Haris A, Pippard MJ, Goudie D. Development of a multiplex ARMS test for mutations in the HFE gene associated with hereditary haemochromatosis. J Clin Pathol 1998; 51: 73-4.
    • (1998) J Clin Pathol , vol.51 , pp. 73-74
    • Baty, D.1    Kwiatkowski, A.T.2    Mechan, D.3    Haris, A.4    Pippard, M.J.5    Goudie, D.6
  • 14
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura C, Raguenes O, Ferec C. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis. Blood 1999; 93: 2502-5.
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 15
    • 0033517341 scopus 로고    scopus 로고
    • Hereditary haemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
    • Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S et al. Hereditary haemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 1999; 341: 725-32.
    • (1999) N Engl J Med , vol.341 , pp. 725-732
    • Pietrangelo, A.1    Montosi, G.2    Totaro, A.3    Garuti, C.4    Conte, D.5    Cassanelli, S.6
  • 16
    • 0026750834 scopus 로고
    • Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis
    • Schwartz M, Brandt NJ, Koch C, Lanng S, Schiøtz PO. Genetic analysis of cystic fibrosis in Denmark. Implications for genetic counselling, carrier diagnosis and prenatal diagnosis. Acta Pædiatr 1992; 81: 522-6.
    • (1992) Acta Pædiatr , vol.81 , pp. 522-526
    • Schwartz, M.1    Brandt, N.J.2    Koch, C.3    Lanng, S.4    Schiøtz, P.O.5
  • 17
    • 0035960427 scopus 로고    scopus 로고
    • Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: A retrospective study
    • Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, Larsen LE, Appleyard M, Frandsen M et al. Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: A retrospective study. Lancet 2001; 358: 1405-9.
    • (2001) Lancet , vol.358 , pp. 1405-1409
    • Ellervik, C.1    Mandrup-Poulsen, T.2    Nordestgaard, B.G.3    Larsen, L.E.4    Appleyard, M.5    Frandsen, M.6
  • 18
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359: 211-8.
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3    Ho, N.J.4    Gelbart, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.