메뉴 건너뛰기




Volumn 64, Issue 6, 2003, Pages 625-628

Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores

Author keywords

Azores; Hemochromatosis; HLA; Linkage disequilibrium; S65C

Indexed keywords

HLA A ANTIGEN; HLA A29 ANTIGEN; HLA ANTIGEN CLASS 1; HLA B ANTIGEN; HLA B44 ANTIGEN; UNCLASSIFIED DRUG;

EID: 0037782103     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0198-8859(03)00052-1     Document Type: Article
Times cited : (9)

References (28)
  • 1
    • 0035116099 scopus 로고    scopus 로고
    • Hemochromatosis: Diagnosis and management
    • Bacon BR: Hemochromatosis: Diagnosis and management. Gastroenterology 120:718, 2001.
    • (2001) Gastroenterology , vol.120 , pp. 718
    • Bacon, B.R.1
  • 2
    • 0034949432 scopus 로고    scopus 로고
    • Hereditary hemochromatosis since discovery of the HFE gene
    • Lyon E, Frank EL: Hereditary hemochromatosis since discovery of the HFE gene. Clin Chem 47:1147, 2001.
    • (2001) Clin Chem , vol.47 , pp. 1147
    • Lyon, E.1    Frank, E.L.2
  • 6
    • 0034609577 scopus 로고    scopus 로고
    • The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
    • Beutler E, Felitti V, Gelbart T, Ho N: The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Int Med 133:329, 2000.
    • (2000) Ann Int Med , vol.133 , pp. 329
    • Beutler, E.1    Felitti, V.2    Gelbart, T.3    Ho, N.4
  • 9
    • 0036177909 scopus 로고    scopus 로고
    • A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation
    • Gochee PA, Powell LW, Cullen DJ, Du Sart D, Rossi E, Olynyk JK: A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology 122:646, 2002.
    • (2002) Gastroenterology , vol.122 , pp. 646
    • Gochee, P.A.1    Powell, L.W.2    Cullen, D.J.3    Du Sart, D.4    Rossi, E.5    Olynyk, J.K.6
  • 10
    • 0002392433 scopus 로고    scopus 로고
    • HLA-H gene mutations and haemochromatosis: The likely association of H63D with mild phenotype and the detection of S65C, a novel variant in exon 2
    • Henz S, Reichen J, Liechti-Gallati S: HLA-H gene mutations and haemochromatosis: The likely association of H63D with mild phenotype and the detection of S65C, a novel variant in exon 2. J Hepatol 26(Suppl 1):57, 1997.
    • (1997) J Hepatol , vol.26 , Issue.SUPPL. 1 , pp. 57
    • Henz, S.1    Reichen, J.2    Liechti-Gallati, S.3
  • 11
    • 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, Férec C: HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis. Blood 93:2502, 1996.
    • (1996) Blood , vol.93 , pp. 2502
    • Mura, C.1    Raguenes, O.2    Férec, C.3
  • 12
    • 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 JC, Sawada-Hirai R, Rothenberg BE, Acton RT: 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 25:146, 1999.
    • (1999) Blood Cells Mol Dis , vol.25 , pp. 146
    • Barton, J.C.1    Sawada-Hirai, R.2    Rothenberg, B.E.3    Acton, R.T.4
  • 13
    • 0021210735 scopus 로고
    • The molecular basis for the association between HLA-A3 and idiopathic haemochromatosis
    • Coulondre C, Lucotte G: The molecular basis for the association between HLA-A3 and idiopathic haemochromatosis. Exp Clin Immunogenet 1:25, 1984,
    • (1984) Exp Clin Immunogenet , vol.1 , pp. 25
    • Coulondre, C.1    Lucotte, G.2
  • 14
    • 0002524896 scopus 로고    scopus 로고
    • Inheritance of hemochromatosis: Family studies
    • Barton JC, Edwards CQ (eds). Cambridge, Cambridge University Press
    • Milman N: Inheritance of hemochromatosis: family studies. In: Barton JC, Edwards CQ (eds): Hemochromatosis: genetics, pathophysiology, diagnosis and treatment. Cambridge, Cambridge University Press, 2000:15-41.
    • (2000) Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment , pp. 15-41
    • Milman, N.1
  • 16
    • 0002862274 scopus 로고    scopus 로고
    • Variation of hemochromatosis prevalence and genotype international groups
    • Barton JC, Edwards CQ (eds). Cambridge, Cambridge University Press
    • Porto G, de Sousa M: Variation of Hemochromatosis Prevalence and Genotype International Groups. In: Barton JC, Edwards CQ (eds): Hemochromatosis: Genetics, pathophysiology, diagnosis and treatment. Cambridge, Cambridge University Press, 2000:51-62.
    • (2000) Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment , pp. 51-62
    • Porto, G.1    De Sousa, M.2
  • 17
    • 0031913638 scopus 로고    scopus 로고
    • Major histocompatibility complex class I associations in iron overload: Evidence for a new link between the HFE H63D mutation, HLA-A29 and 'non-classical' forms of haemochromatosis
    • Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A, Justiça B, Wolff R, De Sousa M: Major histocompatibility complex class I associations in iron overload: Evidence for a new link between the HFE H63D mutation, HLA-A29 and 'non-classical' forms of haemochromatosis. Immunogenetics 47:404, 1997.
    • (1997) Immunogenetics , vol.47 , pp. 404
    • Porto, G.1    Alves, H.2    Rodrigues, P.3    Cabeda, J.M.4    Portal, C.5    Ruivo, A.6    Justiça, B.7    Wolff, R.8    De Sousa, M.9
  • 19
    • 0029130796 scopus 로고
    • Maximum-likelihood estimation of molecular frequencies in a diploid population
    • Excoffier L, Slatkin M: Maximum-likelihood estimation of molecular frequencies in a diploid population. Mol Biol Evol 12:921, 1995.
    • (1995) Mol Biol Evol , vol.12 , pp. 921
    • Excoffier, L.1    Slatkin, M.2
  • 20
    • 0035704753 scopus 로고    scopus 로고
    • Hemochromatosis in a Lithuanian with HFE C282Y homozygosity and C282Y allele frequencies in the Baltic Sea region
    • Barton JC, Acton RT, Prasthofer EF, Rivers CA: Hemochromatosis in a Lithuanian with HFE C282Y homozygosity and C282Y allele frequencies in the Baltic Sea region. Eur J Haematol 67:263, 2001.
    • (2001) Eur J Haematol , vol.67 , pp. 263
    • Barton, J.C.1    Acton, R.T.2    Prasthofer, E.F.3    Rivers, C.A.4
  • 22
    • 0035425811 scopus 로고    scopus 로고
    • HFE gene and hereditary hemochromatosis: A HuGE review
    • Hanson EH, Imperatore G, Burke W: HFE gene and hereditary hemochromatosis: A HuGE review. Am J Epidemiol 154:193, 2001.
    • (2001) Am J Epidemiol , vol.154 , pp. 193
    • Hanson, E.H.1    Imperatore, G.2    Burke, W.3
  • 24
    • 0020680981 scopus 로고
    • HLA-A, B and C markers in the Portuguese population
    • Silva Carvalho CA: HLA-A, B and C markers in the Portuguese population. Tissue Antigens 21:39, 1983.
    • (1983) Tissue Antigens , vol.21 , pp. 39
    • Silva Carvalho, C.A.1
  • 26
    • 0036196205 scopus 로고    scopus 로고
    • Mechanisms of iron accumulation in hereditary hemochromatosis
    • Fleming RE, Sly W: Mechanisms of iron accumulation in hereditary hemochromatosis. Annu Ver Physiol 64:663, 2002.
    • (2002) Annu Ver Physiol , vol.64 , pp. 663
    • Fleming, R.E.1    Sly, W.2
  • 28
    • 0035074637 scopus 로고    scopus 로고
    • S65C frequency in Italian patients with hemochromatosis, porphiria cutanea tarda and chronic viral hepatitis with iron overload
    • Trombini P, Mauri V, Salvioni AO, Corengia CO, Arosio C, Piperno A: S65C frequency in Italian patients with hemochromatosis, porphiria cutanea tarda and chronic viral hepatitis with iron overload. Haematologica 86:316, 2001.
    • (2001) Haematologica , vol.86 , pp. 316
    • Trombini, P.1    Mauri, V.2    Salvioni, A.O.3    Corengia, C.O.4    Arosio, C.5    Piperno, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.