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Volumn 116, Issue 6, 1999, Pages 1409-1412

A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON;

EID: 0033002960     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0016-5085(99)70505-6     Document Type: Article
Times cited : (132)

References (17)
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    • Hemochromatosis
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    • (1995) , pp. 2237-2269
    • Bothwell, TH1    Charlton, RW2    Motulsky, AG3
  • 3
    • 0031557924 scopus 로고    scopus 로고
    • Genetic haemochromatosis. Report of a meeting of physicians and scientists at the Royal Free Hospital School of Medicine
    • JS Dooley AP Walker B Macfarlane M Worwood Genetic haemochromatosis. Report of a meeting of physicians and scientists at the Royal Free Hospital School of Medicine Lancet 349 1997 1688 1693
    • (1997) Lancet , vol.349 , pp. 1688-1693
    • Dooley, JS1    Walker, AP2    Macfarlane, B3    Worwood, M4
  • 6
    • 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 of exon 2 (abstr)
    • S Henz J Reichen S Liechti-Gallati HLA-H gene mutations and haemochromatosis: the likely association of H63D with mild phenotype and the detection of S65C, a novel variant of exon 2 (abstr) J Hepatol 26 1997 57
    • (1997) J Hepatol , vol.26 , pp. 57
    • Henz, S1    Reichen, J2    Liechti-Gallati, S3
  • 7
    • 0002414681 scopus 로고    scopus 로고
    • A single nucleotide deletion in the putative haemochromatosis gene in a patient who is negative for both the C282Y and H63D mutations (abstr)
    • JJ Pointon JD Shearman AT Merr yweather-Clarke KJH Robson A single nucleotide deletion in the putative haemochromatosis gene in a patient who is negative for both the C282Y and H63D mutations (abstr) International Symposium: Iron in Biology and Medicine, St Malo 1997
    • (1997)
    • Pointon, JJ1    Shearman, JD2    Merr yweather-Clarke, AT3    Robson, KJH4
  • 13
    • 0020050314 scopus 로고
    • A catalogue of splice junction sequences
    • SM Mount A catalogue of splice junction sequences Nucleic Acids Res 10 1982 459 472
    • (1982) Nucleic Acids Res , vol.10 , pp. 459-472
    • Mount, SM1
  • 14
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences
    • M Krawczak J Reiss DN Cooper The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences Hum Genet 90 1992 41 54
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M1    Reiss, J2    Cooper, DN3
  • 17
    • 0032478524 scopus 로고    scopus 로고
    • Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor
    • JA Lebron MJ Bennett DE Vaughn AJ Chirino PM Snow GA Mintier JN Feder PJ Bjorkman Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor Cell 93 1998 111 123
    • (1998) Cell , vol.93 , pp. 111-123
    • Lebron, JA1    Bennett, MJ2    Vaughn, DE3    Chirino, AJ4    Snow, PM5    Mintier, GA6    Feder, JN7    Bjorkman, PJ8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.