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Volumn 6, Issue 4, 2002, Pages 327-329

Frequency of hemochromatosis C282Y and H63D mutations in Sardinia

Author keywords

[No Author keywords available]

Indexed keywords

HFE PROTEIN;

EID: 0036916540     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/10906570260471886     Document Type: Article
Times cited : (6)

References (20)
  • 1
    • 16944362620 scopus 로고    scopus 로고
    • Haplotype analysis of hemochromatosis: Evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes
    • Ajioka, R.S., Jorde, L.B., and Gruen, J.R. (1997). Haplotype analysis of hemochromatosis: Evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes. Am. J. Hum. Genet. 60, 1439-1447.
    • (1997) Am. J. Hum. Genet , vol.60 , pp. 1439-1447
    • Ajioka, R.S.1    Jorde, L.B.2    Gruen, J.R.3
  • 2
    • 0033564146 scopus 로고    scopus 로고
    • HFE genotype in patients with hemochromatosis and other liver diseases
    • Bacon, B.R., Olynyk, J.K., Brunt, E.M., Britton, R.S., and Wolff, R.K. (1999). HFE genotype in patients with hemochromatosis and other liver diseases. Ann. Intern. Med. 130, 953-962.
    • (1999) Ann. Intern. Med , vol.130 , pp. 953-962
    • Bacon, B.R.1    Olynyk, J.K.2    Brunt, E.M.3    Britton, R.S.4    Wolff, R.K.5
  • 3
    • 0033150066 scopus 로고    scopus 로고
    • Two novel missense mutations of the HFE gene (I105T) and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
    • Barton, J.C., Sawada-Hirai, R., Rothenberg, B.E., and Acton, R.T. (1999). Two novel missense mutations of the HFE gene (I105T) and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol. Dis. 25, 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
  • 8
    • 0031778690 scopus 로고    scopus 로고
    • The hemochromatosis 845 G → A and 187 C → G mutations: Prevalence in noncaucasian populations
    • Cullen, L.M., Gao, X., Easteal, S., and Jazwinska, E.C. (1998). The hemochromatosis 845 G → A and 187 C → G mutations: Prevalence in noncaucasian populations. Am. J. Hum. Genet. 62, 1403-1407.
    • (1998) Am. J. Hum. Genet , vol.62 , pp. 1403-1407
    • Cullen, L.M.1    Gao, X.2    Easteal, S.3    Jazwinska, E.C.4
  • 10
    • 0034642303 scopus 로고    scopus 로고
    • The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases
    • Lampis, R., Morelli, L., Congia, M., Macis, M.D., Mulargia, A.P., Loddo, M., De Virgiliis, S., Marrosu, M.G., Todd, J.A., and Cucca, F. (2000). The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases. Hum. Mol. Genet. 20, 2959-2965.
    • (2000) Hum. Mol. Genet , vol.20 , pp. 2959-2965
    • Lampis, R.1    Morelli, L.2    Congia, M.3    Macis, M.D.4    Mulargia, A.P.5    Loddo, M.6    De Virgiliis, S.7    Marrosu, M.G.8    Todd, J.A.9    Cucca, F.10
  • 11
    • 0032451073 scopus 로고    scopus 로고
    • Celtic origin of the C282Y mutation of hemochromatosis
    • Lucotte, G. (1998). Celtic origin of the C282Y mutation of hemochromatosis. Blood Cells Mol. Dis. 24, 433-438.
    • (1998) Blood Cells Mol. Dis , vol.24 , pp. 433-438
    • Lucotte, G.1
  • 14
    • 0033210370 scopus 로고    scopus 로고
    • The usefulness of the detection of Cys282Tyr and His63Asp mutations in the diagnosis of hereditary hemochromatosis
    • Moreno, L., Vallcorba, P., Boixeda, D., Cabello, P., Bermejo, F., and San Roman, C. (1999). The usefulness of the detection of Cys282Tyr and His63Asp mutations in the diagnosis of hereditary hemochromatosis. Rev. Clin. Esp. 199, 632-636.
    • (1999) Rev. Clin. Esp , vol.199 , pp. 632-636
    • Moreno, L.1    Vallcorba, P.2    Boixeda, D.3    Cabello, P.4    Bermejo, F.5    San Roman, C.6
  • 19
    • 17044442568 scopus 로고    scopus 로고
    • Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    • Sanchez, M., Bruguera, M., Bosch, J., Rodes, J., Ballesta, F., and Oliva, R. (1998). Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J. Hepatol. 29, 725-728.
    • (1998) J. Hepatol , vol.29 , pp. 725-728
    • Sanchez, M.1    Bruguera, M.2    Bosch, J.3    Rodes, J.4    Ballesta, F.5    Oliva, R.6
  • 20
    • 0033002960 scopus 로고    scopus 로고
    • A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
    • Wallace, D.F., Dooley, J.S., and Walker, A.P. (1999). A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology 116, 1409-1412.
    • (1999) Gastroenterology , vol.116 , pp. 1409-1412
    • Wallace, D.F.1    Dooley, J.S.2    Walker, A.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.