메뉴 건너뛰기




Volumn 24, Issue 3, 1998, Pages 317-321

Transferrin receptor mutation analysis in hereditary hemochromatosis patients

Author keywords

Hereditary hemochromatosis; HFE; Polymorphism; Transferrin receptor

Indexed keywords

AMINO ACID; COMPLEMENTARY DNA; CYSTEINE; NUCLEOTIDE; TRANSFERRIN RECEPTOR; TYROSINE;

EID: 0032171048     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1006/bcmd.1998.0199     Document Type: Article
Times cited : (23)

References (20)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • 1. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genet 13:399-408, 1996.
    • (1996) Nature Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 2
    • 0030221927 scopus 로고    scopus 로고
    • Mutation analysis in hereditary hemochromatosis
    • 2. Beutler E, Gelbart T, West C, et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis 22:187-194, 1996.
    • (1996) Blood Cells Mol Dis , vol.22 , pp. 187-194
    • Beutler, E.1    Gelbart, T.2    West, C.3
  • 4
    • 0031024211 scopus 로고    scopus 로고
    • Hemochromatosis and "HLA-H": Definite!
    • 4. Jazwinska EC, Powell LW. Hemochromatosis and "HLA-H": definite! Hepatology 25(2):495-496, 1997.
    • (1997) Hepatology , vol.25 , Issue.2 , pp. 495-496
    • Jazwinska, E.C.1    Powell, L.W.2
  • 7
    • 0030878126 scopus 로고    scopus 로고
    • HLA-H and associated proteins in patients with hemochromatosis
    • 7. Beutler E, West C, Gelbart T. HLA-H and associated proteins in patients with hemochromatosis. Mol Med 3(6):397-402, 1997.
    • (1997) Mol Med , vol.3 , Issue.6 , pp. 397-402
    • Beutler, E.1    West, C.2    Gelbart, T.3
  • 8
    • 13144282684 scopus 로고    scopus 로고
    • The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding
    • 8. Feder JN, Penny DM, Irrinki A, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci USA 95(4):1472-1477, 1998.
    • (1998) Proc Natl Acad Sci USA , vol.95 , Issue.4 , pp. 1472-1477
    • Feder, J.N.1    Penny, D.M.2    Irrinki, A.3
  • 9
    • 0030712463 scopus 로고    scopus 로고
    • Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis
    • 9. Pakkila S, Waheed A, Britton RS, et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc Natl Acad Sci USA 94(24):13198-13202, 1997.
    • (1997) Proc Natl Acad Sci USA , vol.94 , Issue.24 , pp. 13198-13202
    • Pakkila, S.1    Waheed, A.2    Britton, R.S.3
  • 11
    • 0020505845 scopus 로고
    • Chromosome 3q (22-ter) encodes the human transferrin receptor
    • 11. Miller YE, Jones C, Scoggin C, Morse H, Seligman P. Chromosome 3q (22-ter) encodes the human transferrin receptor. Am J Hum Genet 5(4):573-583, 1983.
    • (1983) Am J Hum Genet , vol.5 , Issue.4 , pp. 573-583
    • Miller, Y.E.1    Jones, C.2    Scoggin, C.3    Morse, H.4    Seligman, P.5
  • 12
    • 0021015118 scopus 로고
    • Localization of a gene controlling the expression of the human transferrin receptor to the region q12 leads to qter of chromosome 3
    • 12. van de Rijn M, Geurts van Kessel AH, Kroezen V, et al. Localization of a gene controlling the expression of the human transferrin receptor to the region q12 leads to qter of chromosome 3. Cytogenet Cell Genet 36(3):525-531, 1983.
    • (1983) Cytogenet Cell Genet , vol.36 , Issue.3 , pp. 525-531
    • Van De Rijn, M.1    Geurts Van Kessel, A.H.2    Kroezen, V.3
  • 13
    • 0017158302 scopus 로고
    • Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis
    • 13. Simon M, Bourel M, Fauchet R, Genetet B, et al. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 17:332-334, 1976.
    • (1976) Gut , vol.17 , pp. 332-334
    • Simon, M.1    Bourel, M.2    Fauchet, R.3    Genetet, B.4
  • 15
    • 0021685289 scopus 로고
    • The human transferrin receptor gene: Genomic organization, and the complete primary structure of the receptor deduced from a cDNA sequence
    • 15. McClelland A, Kuhn LC, Ruddle FH. The human transferrin receptor gene: genomic organization, and the complete primary structure of the receptor deduced from a cDNA sequence. Cell 39(2):267-274, 1984.
    • (1984) Cell , vol.39 , Issue.2 , pp. 267-274
    • McClelland, A.1    Kuhn, L.C.2    Ruddle, F.H.3
  • 16
    • 0021130929 scopus 로고
    • Primary structure of human transferrin receptor deduced from the mRNA sequence
    • 16. Schneider C, Owen MJ, Banville D, Williams JG. Primary structure of human transferrin receptor deduced from the mRNA sequence. Nature 311(5987): 675-678, 1984.
    • (1984) Nature , vol.311 , Issue.5987 , pp. 675-678
    • Schneider, C.1    Owen, M.J.2    Banville, D.3    Williams, J.G.4
  • 17
    • 0030158571 scopus 로고    scopus 로고
    • The Staden sequence analysis package
    • 17. Staden R. The Staden sequence analysis package. Mol Biotechnol 5(3):233-241, 1996.
    • (1996) Mol Biotechnol , vol.5 , Issue.3 , pp. 233-241
    • Staden, R.1
  • 18
    • 0029883209 scopus 로고    scopus 로고
    • Testing the feasibility of DNA typing for human identification by PCR and an oligonucleotide ligation assay
    • 18. Delahunty C, Ankener W, Deng Q, Eng J, Nickerson DA. Testing the feasibility of DNA typing for human identification by PCR and an oligonucleotide ligation assay. Am J Hum Genet 58:1239-1246, 1996.
    • (1996) Am J Hum Genet , vol.58 , pp. 1239-1246
    • Delahunty, C.1    Ankener, W.2    Deng, Q.3    Eng, J.4    Nickerson, D.A.5
  • 19
    • 0030852440 scopus 로고    scopus 로고
    • Exon/intron structure of the human transferrin receptor
    • 19. Evans P, Kemp J. Exon/intron structure of the human transferrin receptor. Gene 199(1-2):123-131, 1997.
    • (1997) Gene , vol.199 , Issue.1-2 , pp. 123-131
    • Evans, P.1    Kemp, J.2
  • 20
    • 0022002193 scopus 로고
    • cDNA cloning of the murine transferrin receptor: Sequence of transmambrane and adjacent regions
    • 20. Stearne PA, Pietersz GA, Goding JW. cDNA cloning of the murine transferrin receptor: sequence of transmambrane and adjacent regions. J Immunol 134(5): 3474-3479, 1935.
    • (1935) J Immunol , vol.134 , Issue.5 , pp. 3474-3479
    • Stearne, P.A.1    Pietersz, G.A.2    Goding, J.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.