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Volumn 7, Issue 3, 2005, Pages 212-213

Is the IVS2+4T>C variant of the HFE gene a splicing mutation or a polymorphism? A study in the Spanish population [4]

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6; CONTROLLED STUDY; DNA POLYMORPHISM; GENE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC VARIABILITY; HAPLOTYPE; HEMOCHROMATOSIS; HFE GENE; HUMAN; LETTER; MAJOR HISTOCOMPATIBILITY COMPLEX; RNA SPLICING; SPAIN;

EID: 16444368850     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000157125.89581.09     Document Type: Letter
Times cited : (5)

References (5)
  • 1
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis
    • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996;13:399-408.
    • (1996) Nat Genet , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3    Tsuchihashi, Z.4    Ruddy, D.A.5    Basava, A.6
  • 2
    • 0032815881 scopus 로고    scopus 로고
    • Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria
    • de Villiers JNP, Hillermann R, Loubser L, Kotze MJ. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum Mol Genet 1999;8:1517-1522.
    • (1999) Hum Mol Genet , vol.8 , pp. 1517-1522
    • De Villiers, J.N.P.1    Hillermann, R.2    Loubser, L.3    Kotze, M.J.4
  • 5
    • 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 hemochromatosis
    • Porto G, Alves H, Rodrigues P, Cabeda JM, Portal C, Ruivo A et al. 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 hemochromatosis. Immunogenetics 1998;47:404-410.
    • (1998) Immunogenetics , vol.47 , pp. 404-410
    • Porto, G.1    Alves, H.2    Rodrigues, P.3    Cabeda, J.M.4    Portal, C.5    Ruivo, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.