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Volumn 61, Issue 3, 1997, Pages 762-764

The significance of the 187G (H63D) mutation in hemochromatosis [2]

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC DISORDER; HEMOCHROMATOSIS; HLA SYSTEM; HUMAN; IRON METABOLISM; LETTER; METABOLIC DISORDER; MOUSE; NONHUMAN; PRIORITY JOURNAL;

EID: 0030827084     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0002-9297(07)64339-0     Document Type: Letter
Times cited : (162)

References (15)
  • 1
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    • Allitto B, Finn P, Napolitano N, Sytsma M, Sugarman E, Ekstein J, Miller G, et al (1996) Prevalence of the 1604A Gaucher disease mutation in the general Ashkenazi Jewish population. Paper presented at the scientific symposium Advances in Jewish Genetic Diseases, Mt. Sinai Medical Center, New York, October 12-14
  • 2
    • 0031037009 scopus 로고    scopus 로고
    • Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations
    • E Beutler Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations Lancet 349 1997 296 297
    • (1997) Lancet , vol.349 , pp. 296-297
    • Beutler, E1
  • 4
    • 0030839925 scopus 로고    scopus 로고
    • HLA-H mutations in the Ashkenazi Jewish population
    • E Beutler T Gelbart HLA-H mutations in the Ashkenazi Jewish population Blood Cells Mol Dis 23 1997 95 98
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 95-98
    • Beutler, E1    Gelbart, T2
  • 5
    • 0030878126 scopus 로고    scopus 로고
    • HLA-H and associated proteins in patients with hemochromatosis
    • E Beutler C West T Gelbart HLA-H and associated proteins in patients with hemochromatosis Mol Med 3 1997 a 397 402
    • (1997) Mol Med , vol.3 , pp. 397-402
    • Beutler, E1    West, C2    Gelbart, T3
  • 6
    • 0000518262 scopus 로고    scopus 로고
    • Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Commentary
    • E Beutler C West T Gelbart VJ Felitti Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis. Commentary Blood Cells Mol Dis 23 1997 145a 145b
    • (1997) Blood Cells Mol Dis , vol.23 , pp. 145a-145b
    • Beutler, E1    West, C2    Gelbart, T3    Felitti, VJ4
  • 7
    • 0031047769 scopus 로고    scopus 로고
    • Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients
    • N Borot MP Roth L Malfroy C Demangel JP Vinel JP Pascal H Coppin Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients Immunogenetics 45 1997 320 324
    • (1997) Immunogenetics , vol.45 , pp. 320-324
    • Borot, N1    Roth, MP2    Malfroy, L3    Demangel, C4    Vinel, JP5    Pascal, JP6    Coppin, H7
  • 11
    • 0028878293 scopus 로고
    • Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
    • EC Jazwinska WR Pyper MJ Burt JL Francis S Goldwurm SI Webb SC Lee Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis Am J Hum Genet 56 1995 428 433
    • (1995) Am J Hum Genet , vol.56 , pp. 428-433
    • Jazwinska, EC1    Pyper, WR2    Burt, MJ3    Francis, JL4    Goldwurm, S5    Webb, SI6    Lee, SC7
  • 13
    • 0031016791 scopus 로고    scopus 로고
    • Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda
    • AG Roberts SD Whatley R Morgan M Worwood GH Elder RR Morgan Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda Lancet 349 1997 321 323
    • (1997) Lancet , vol.349 , pp. 321-323
    • Roberts, AG1    Whatley, SD2    Morgan, R3    Worwood, M4    Elder, GH5    Morgan, RR6
  • 14
    • 0029670047 scopus 로고    scopus 로고
    • β2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism
    • 2 knockout mice develop parenchymal iron overload: a putative role for class I genes of the major histocompatibility complex in iron metabolism Proc Natl Acad Sci USA 93 1996 1529 1534
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 1529-1534
    • Rothenberg, BE1    Voland, JR2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.