메뉴 건너뛰기




Volumn 124, Issue 48, 1999, Pages 1448-1452

HFE polymorphism in German patients with hereditary haemochromatosis;Nachweis des HFE-polymorphismus bei deutschen patienten mit hereditarer hamochromatose

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 6; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GEOGRAPHIC DISTRIBUTION; GERMANY; HEMOCHROMATOSIS; HUMAN; MAJOR CLINICAL STUDY; PATHOGENESIS;

EID: 0033521013     PISSN: 00120472     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1035680     Document Type: Article
Times cited : (11)

References (30)
  • 1
    • 0033150066 scopus 로고    scopus 로고
    • Two novel missense mutations of the HFE gene (1105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
    • Barton, J. C., R. Sawada-Hirai, B. E. Rothenberg, R. T. Acton: Two novel missense mutations of the HFE gene (1105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol. Dis. 25 (1999), 147-155.
    • (1999) Blood Cells Mol. Dis. , vol.25 , pp. 147-155
    • Barton, J.C.1    Sawada-Hirai, R.2    Rothenberg, B.E.3    Acton, R.T.4
  • 2
    • 0031037009 scopus 로고    scopus 로고
    • Genetic irony beyond haemochromatosis: Clinical effects of HLA-H mutations
    • Beutler, E.: Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations. Lancet 349 (1997), 296-297.
    • (1997) Lancet , vol.349 , pp. 296-297
    • Beutler, E.1
  • 3
    • 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 (1997), 762-764.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 762-764
    • Beutler, E.1
  • 4
    • 0030839925 scopus 로고    scopus 로고
    • HLA-H mutations in the Ashkenazi Jewish population
    • Beutler, E., T. Gelbart: HLA-H mutations in the Ashkenazi Jewish population. Blood Cells Mol. Dis. 23 (1997), 95-98.
    • (1997) Blood Cells Mol. Dis. , vol.23 , pp. 95-98
    • Beutler, E.1    Gelbart, T.2
  • 5
    • 0031132040 scopus 로고    scopus 로고
    • Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction - A very rare mutation in the Chinese population
    • Chang, J. G., T. C. Liu, S. F. Lin: Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction - a very rare mutation in the Chinese population. Blood 89 (1997), 3492-3493.
    • (1997) Blood , vol.89 , pp. 3492-3493
    • Chang, J.G.1    Liu, T.C.2    Lin, S.F.3
  • 14
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • Lebron, J. A., M. J. Bennett, D. E. Vaughn, A. J. Chirino, P. M. Snow, G. A. Mintier, J. N. Feder, P. J. Bjorkman: Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93 (1998), 111-123.
    • (1998) Cell , vol.93 , pp. 111-123
    • Lebron, J.A.1    Bennett, M.J.2    Vaughn, D.E.3    Chirino, A.J.4    Snow, P.M.5    Mintier, G.A.6    Feder, J.N.7    Bjorkman, P.J.8
  • 17
    • 0033561342 scopus 로고    scopus 로고
    • HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
    • Mura, C., O. Raguenes, C. Ferec: HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood 93 (1999), 2502-2505.
    • (1999) Blood , vol.93 , pp. 2502-2505
    • Mura, C.1    Raguenes, O.2    Ferec, C.3
  • 19
  • 24
    • 0031016791 scopus 로고    scopus 로고
    • Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
    • Roberts, A. G., S. D. Whatley, R. R. Morgan, M. Worwood, G. H. Elder: Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 349 (1997), 321-323.
    • (1997) Lancet , vol.349 , pp. 321-323
    • Roberts, A.G.1    Whatley, S.D.2    Morgan, R.R.3    Worwood, M.4    Elder, G.H.5
  • 27
    • 0030732164 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells
    • Waheed, A., S. Parkkila, X. Y. Zhou, S. Tomatsu, Z. Tsuchihashi, J. N. Feder, R. C. Schatzman, R. S. Britton, B. R. Bacon, W. S. Sly: Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. Proc. Natl. Acad. Sci. U.S.A. 94 (1997), 12384-12389.
    • (1997) Proc. Natl. Acad. Sci. U.S.A. , vol.94 , pp. 12384-12389
    • 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
  • 28
    • 0033002960 scopus 로고    scopus 로고
    • A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
    • Wallace, D. F., J. S. Dooley, A. P. Walker: A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 116 (1999), 1409-1412.
    • (1999) Gastroenterology , vol.116 , pp. 1409-1412
    • Wallace, D.F.1    Dooley, J.S.2    Walker, A.P.3
  • 29
    • 0031214025 scopus 로고    scopus 로고
    • A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England
    • Willis, G., B. A. Jennings, E. Goodman, I. W. Fellows, J. Z. Wimperis: A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England. Blood Cells Mol. Dis. 23 (1997), 288-291.
    • (1997) Blood Cells Mol. Dis. , vol.23 , pp. 288-291
    • Willis, G.1    Jennings, B.A.2    Goodman, E.3    Fellows, I.W.4    Wimperis, J.Z.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.