메뉴 건너뛰기




Volumn 60, Issue 4, 1997, Pages 828-832

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; FEMALE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HEMOCHROMATOSIS; HLA SYSTEM; HUMAN; INTESTINE ABSORPTION; IRON ABSORPTION; IRON METABOLISM; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SCREENING;

EID: 16944363480     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (340)

References (21)
  • 1
    • 0029029626 scopus 로고
    • Screening blood donors for hereditary hemochromatosis: Decision analysis model based on a 30-year database
    • Adams PC, Gregor JC, Kertesz AE, Valberg LS (1995) Screening blood donors for hereditary hemochromatosis: decision analysis model based on a 30-year database. Gastroenterology 109:177-188
    • (1995) Gastroenterology , vol.109 , pp. 177-188
    • Adams, P.C.1    Gregor, J.C.2    Kertesz, A.E.3    Valberg, L.S.4
  • 3
    • 0028141430 scopus 로고
    • Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations
    • Bisceglia L, Grifa A, Zelante L, Gasparini P (1994) Development of RNA-SSCP protocols for the identification and screening of CFTR mutations: identification of two new mutations. Hum Mutat 4:136-140
    • (1994) Hum Mutat , vol.4 , pp. 136-140
    • Bisceglia, L.1    Grifa, A.2    Zelante, L.3    Gasparini, P.4
  • 6
    • 0026601599 scopus 로고
    • Liver pathology in genetic hemochromatosis: A review of 135 homozygous cases and their bioclinical correlation
    • Deugnier YM, Loreal O, Turlin B Guyader D, Jouanolle H, Moirand R, Jaquelinet C, et al (1992) Liver pathology in genetic hemochromatosis: a review of 135 homozygous cases and their bioclinical correlation. Gastroenterology 102:2050-2059
    • (1992) Gastroenterology , vol.102 , pp. 2050-2059
    • Deugnier, Y.M.1    Loreal, O.2    Turlin, B.3    Guyader, D.4    Jouanolle, H.5    Moirand, R.6    Jaquelinet, C.7
  • 9
    • 0023721932 scopus 로고
    • Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: A collaborative study
    • Estivill X, Farral M, Williamson R, Ferrari M, Seia M, Giunta AM, Novelli G, et al (1988) Linkage disequilibrium between cystic fibrosis and linked DNA polymorphisms in Italian families: a collaborative study. Am J Hum Genet 43:23-28
    • (1988) Am J Hum Genet , vol.43 , pp. 23-28
    • Estivill, X.1    Farral, M.2    Williamson, R.3    Ferrari, M.4    Seia, M.5    Giunta, A.M.6    Novelli, G.7
  • 12
    • 0028878293 scopus 로고
    • Haplotype analysis in Australian hemochromatosis patients: Evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis
    • Jazwinska EC, Pyper WR, Burt MJ, Francis JL, Goldwurm S, Webb SI, Lee SC, et al (1995) Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet 56:428-433
    • (1995) Am J Hum Genet , vol.56 , pp. 428-433
    • Jazwinska, E.C.1    Pyper, W.R.2    Burt, M.J.3    Francis, J.L.4    Goldwurm, S.5    Webb, S.I.6    Lee, S.C.7
  • 14
    • 15844397210 scopus 로고    scopus 로고
    • The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients
    • Piperno A, Arosio C, Fargion S, Roetto A, Nicoli C, Girelli D, Sbaiz L, et al (1996) The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients. Hepatology 24:43-46
    • (1996) Hepatology , vol.24 , pp. 43-46
    • Piperno, A.1    Arosio, C.2    Fargion, S.3    Roetto, A.4    Nicoli, C.5    Girelli, D.6    Sbaiz, L.7
  • 15
    • 0001019873 scopus 로고
    • Primary iron overload
    • Brock H, Halliday JW, Pippard MJ, Powell LP (eds). Saunders, London
    • Powell LP, Jazwinska E, Halliday JW (1994) Primary iron overload. In: Brock H, Halliday JW, Pippard MJ, Powell LP (eds) Iron metabolism in health and disease. Saunders, London, pp 227-270
    • (1994) Iron Metabolism in Health and Disease , pp. 227-270
    • Powell, L.P.1    Jazwinska, E.2    Halliday, J.W.3
  • 17
    • 0029670047 scopus 로고    scopus 로고
    • 2 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 93:1529-1534
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 1529-1534
    • Rothenberg, B.E.1    Voland, J.R.2
  • 18
    • 0026528056 scopus 로고
    • Screening for mutations by RNA single strand conformation polymorphisms (rSSCP): Comparison with DNA-SSCP
    • Saarkar G, Yoon H-S, Sommer S (1992) Screening for mutations by RNA single strand conformation polymorphisms (rSSCP): comparison with DNA-SSCP. Nucleic Acids Res 20:871-878
    • (1992) Nucleic Acids Res , vol.20 , pp. 871-878
    • Saarkar, G.1    Yoon, H.-S.2    Sommer, S.3
  • 19
    • 39149136945 scopus 로고
    • Hepatic pathology in relatives of patients with hemochromatosis
    • Scheuer PJ, Williams R, Muir AR (1992) Hepatic pathology in relatives of patients with hemochromatosis. J Pathol Bacteriol 84:53-64
    • (1992) J Pathol Bacteriol , vol.84 , pp. 53-64
    • Scheuer, P.J.1    Williams, R.2    Muir, A.R.3
  • 21
    • 0025065435 scopus 로고
    • Prevalence of idiopathic hemochromatosis in Italy: Study of 1,301 blood donors
    • Velati C, Piperno A, Fargion S, Colombo S, Fiorelli G (1990) Prevalence of idiopathic hemochromatosis in Italy: study of 1,301 blood donors. Haematologica 75:309-312
    • (1990) Haematologica , vol.75 , pp. 309-312
    • Velati, C.1    Piperno, A.2    Fargion, S.3    Colombo, S.4    Fiorelli, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.