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Volumn 34, Issue 2, 1997, Pages 148-151

Haemochromatosis: A gene at last?

Author keywords

Genetic mapping; Haemochromatosis

Indexed keywords

ARTICLE; CONTROLLED STUDY; GENE ISOLATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; HEMOCHROMATOSIS; HUMAN; HUMAN CELL; PRIORITY JOURNAL;

EID: 16944362318     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.2.148     Document Type: Article
Times cited : (7)

References (25)
  • 1
    • 0017158302 scopus 로고
    • Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis
    • Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 1976;17:332-4.
    • (1976) Gut , vol.17 , pp. 332-334
    • Simon, M.1    Bourel, M.2    Fauchet, R.3    Genetet, B.4
  • 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, 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
  • 3
    • 0001257976 scopus 로고
    • Idiopathic haemochromatosis, an iron storage disease
    • Finch SC, Finch CA. Idiopathic haemochromatosis, an iron storage disease. Medicine 1955;34:381-430.
    • (1955) Medicine , vol.34 , pp. 381-430
    • Finch, S.C.1    Finch, C.A.2
  • 5
    • 0029913626 scopus 로고    scopus 로고
    • Long-term survival in patients with hereditary hemochromatosis
    • Niederau C, Fischer R, Purschel A, et al. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996;110:1107-19.
    • (1996) Gastroenterology , vol.110 , pp. 1107-1119
    • Niederau, C.1    Fischer, R.2    Purschel, A.3
  • 6
    • 0022368621 scopus 로고
    • Survival and causes of death in cirrhotic and in non cirrhotic patients with primary hemochromatosis
    • Niederau C, Fischer R, Sonnenberg A, et al. Survival and causes of death in cirrhotic and in non cirrhotic 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
  • 7
    • 0023200271 scopus 로고
    • A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association
    • Simon M, Le Mignon L, Fauchet R, et al. A study of 609 HLA haplotypes marking for the hemochromatosis gene: (1) mapping of the gene near the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association. Am J Hum Genet 1987;41:89-105.
    • (1987) Am J Hum Genet , vol.41 , pp. 89-105
    • Simon, M.1    Le Mignon, L.2    Fauchet, R.3
  • 8
    • 0027159742 scopus 로고
    • Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: Localization of the gene centromeric to HLA-F
    • Gasparini P, Borgato L, Piperno A, et al. Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F. Hum Mol Genet 1993;2:571-6.
    • (1993) Hum Mol Genet , vol.2 , pp. 571-576
    • Gasparini, P.1    Borgato, L.2    Piperno, A.3
  • 9
    • 0028013203 scopus 로고
    • Anonymous marker loci within 400kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)
    • Yaouanq J, Perichon M, Chorney M, et al. Anonymous marker loci within 400kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am J Hum Genet 1994;54:252-63.
    • (1994) Am J Hum Genet , vol.54 , pp. 252-263
    • Yaouanq, J.1    Perichon, M.2    Chorney, M.3
  • 10
    • 0027403573 scopus 로고
    • Localisation of seven new genes around the HLA-A locus
    • El Kahloun A, Chauvel B, Mauvieux V, et al. Localisation of seven new genes around the HLA-A locus. Hum Mol Genet 1993;2:55-60.
    • (1993) Hum Mol Genet , vol.2 , pp. 55-60
    • El Kahloun, A.1    Chauvel, B.2    Mauvieux, V.3
  • 13
    • 0028276040 scopus 로고
    • Alleles at D6S265 and D6S105 define a haemochromatosis specific-genotype
    • Worwood M, Raha-Chowdhury R, Dorak MT, et al. Alleles at D6S265 and D6S105 define a haemochromatosis specific-genotype. Br J Haematol 1994;86:863-6.
    • (1994) Br J Haematol , vol.86 , pp. 863-866
    • Worwood, M.1    Raha-Chowdhury, R.2    Dorak, M.T.3
  • 14
    • 0028102790 scopus 로고
    • Isolation of CA dinucleotide repeats close to D6S105: Linkage disequilibrium with haemochromatosis
    • Stone C, Pointon JJ, Jazwinska EC, et al. Isolation of CA dinucleotide repeats close to D6S105: linkage disequilibrium with haemochromatosis. Hum Mol Genet 1994;3:2043-6.
    • (1994) Hum Mol Genet , vol.3 , pp. 2043-2046
    • Stone, C.1    Pointon, J.J.2    Jazwinska, E.C.3
  • 15
    • 0029985519 scopus 로고    scopus 로고
    • A 4.5 megabase YAC contig and physical map over the hemochromatosis gene region
    • Burt MJ, Smit DJ, Pyper WR, Powell LW, Jazwinska EC. A 4.5 megabase YAC contig and physical map over the hemochromatosis gene region. Genomics 1996;33:153-8.
    • (1996) Genomics , vol.33 , pp. 153-158
    • Burt, M.J.1    Smit, D.J.2    Pyper, W.R.3    Powell, L.W.4    Jazwinska, E.C.5
  • 16
    • 0029085913 scopus 로고
    • Characterisation of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F
    • Calandro LM, Baer DM, Sensabaugh GF. Characterisation of a recombinant that locates the hereditary hemochromatosis gene telomeric to HLA-F. Hum Genet 1995;96:339-42.
    • (1995) Hum Genet , vol.96 , pp. 339-342
    • Calandro, L.M.1    Baer, D.M.2    Sensabaugh, G.F.3
  • 17
    • 16944365303 scopus 로고    scopus 로고
    • A new microsatellite marker at the RFP locus on chromosome 6p22 definitely located the haemochromatosis gene at least one megabase telomeric to HLA-A
    • Malfroy L, Coppin H, Calandro LM, et al. A new microsatellite marker at the RFP locus on chromosome 6p22 definitely located the haemochromatosis gene at least one megabase telomeric to HLA-A. Eur J Hum Genet 1996;4(suppl 1):5.105.
    • (1996) Eur J Hum Genet , vol.4 , Issue.1 SUPPL.
    • Malfroy, L.1    Coppin, H.2    Calandro, L.M.3
  • 18
    • 0029047936 scopus 로고
    • Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis
    • Raha-Chowdhury R, Bowen DJ, Burnett AK, Worwood M. Allelic associations and homozygosity at loci from HLA-B to D6S299 in genetic haemochromatosis. J Med Genet 1995;32:442-52.
    • (1995) J Med Genet , vol.32 , pp. 442-452
    • Raha-Chowdhury, R.1    Bowen, D.J.2    Burnett, A.K.3    Worwood, M.4
  • 19
    • 0028805511 scopus 로고
    • New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105
    • Raha-Chowdhury R, Bowen DJ, Stone C, et al. New polymorphic microsatellite markers place the haemochromatosis gene telomeric to D6S105. Hum Mol Genet 1995;4:1869-74.
    • (1995) Hum Mol Genet , vol.4 , pp. 1869-1874
    • Raha-Chowdhury, R.1    Bowen, D.J.2    Stone, C.3
  • 20
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • Hästbacka J, Kaitila I, Sistonen P, de la Chapelle A. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 1992;2:204-11.
    • (1992) Nat Genet , vol.2 , pp. 204-211
    • Hästbacka, J.1    Kaitila, I.2    Sistonen, P.3    De La Chapelle, A.4
  • 21
    • 0027978110 scopus 로고
    • The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
    • Hästbacka J, de la Chapelle A, Mahtani MM, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994;78:1073-87.
    • (1994) Cell , vol.78 , pp. 1073-1087
    • Hästbacka, J.1    De La Chapelle, A.2    Mahtani, M.M.3
  • 22
    • 0027236091 scopus 로고
    • Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: Linkage disequilibrium allows high resolution mapping
    • Lehesjoki AE, Koskiniemi M, Norio R, et al. Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 1993;2:1229-34.
    • (1993) Hum Mol Genet , vol.2 , pp. 1229-1234
    • Lehesjoki, A.E.1    Koskiniemi, M.2    Norio, R.3
  • 25
    • 0029670047 scopus 로고    scopus 로고
    • β2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibilty complex in iron metabolism
    • Rothenberg BE, Voland JR. β2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibilty complex in iron metabolism. Proc Natl Acad Sci USA 1996;93:1529-4.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 1529-1534
    • Rothenberg, B.E.1    Voland, J.R.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.