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Volumn 18, Issue 2 SPEC. ISS., 2005, Pages 203-220

The penetrance of hereditary hemochromatosis

Author keywords

C282Y; H63D; Hemochromatosis; HFE; Iron metabolism

Indexed keywords

ALCOHOL; FERRITIN; HFE PROTEIN; TRANSFERRIN;

EID: 14544277888     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beha.2004.08.023     Document Type: Review
Times cited : (90)

References (69)
  • 3
    • 9344224529 scopus 로고    scopus 로고
    • A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
    • J.N. Feder A. Gnirke W. Thomas et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis Nature Genetics 13 1996 399-408
    • (1996) Nature Genetics , vol.13 , pp. 399-408
    • Feder, J.N.1    Gnirke, A.2    Thomas, W.3
  • 4
    • 0034105259 scopus 로고    scopus 로고
    • Incidence of liver disease in people with HFE mutations
    • G. Willis J.Z. Wimperis R. Lonsdale et al. Incidence of liver disease in people with HFE mutations Gut 46 2000 401-404
    • (2000) Gut , vol.46 , pp. 401-404
    • Willis, G.1    Wimperis, J.Z.2    Lonsdale, R.3
  • 6
    • 1842579593 scopus 로고    scopus 로고
    • Hemochromatosis mutations in the general population: Iron overload progression rate
    • R.V. Andersen A. Tybjaerg-Hansen M. Appleyard et al. Hemochromatosis mutations in the general population: Iron overload progression rate Blood 103 2004 2914-2919
    • (2004) Blood , vol.103 , pp. 2914-2919
    • Andersen, R.V.1    Tybjaerg-Hansen, A.2    Appleyard, M.3
  • 7
    • 0035990185 scopus 로고    scopus 로고
    • Persons with screening-detected haemochromatosis: As healthy as the general population?
    • Åsberg K. Hveem O. Kruger et al. Persons with screening-detected haemochromatosis: As healthy as the general population? Scandinavian Journal of Gastroenterology 37 2002 719-724
    • (2002) Scandinavian Journal of Gastroenterology , vol.37 , pp. 719-724
    • Åsberg, A.1    Hveem, K.2    Kruger, O.3
  • 8
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis - A new look at an old disease
    • A. Pietrangelo Hereditary hemochromatosis - a new look at an old disease New England Journal of Medicine 350 2004 2383-2397
    • (2004) New England Journal of Medicine , vol.350 , pp. 2383-2397
    • Pietrangelo, A.1
  • 9
    • 0033517343 scopus 로고    scopus 로고
    • A population-based study of the clinical expression of the hemochromatosis gene
    • J.K. Olynyk D.J. Cullen S. Aquilia et al. A population-based study of the clinical expression of the hemochromatosis gene New England Journal of Medicine 341 1999 718-724
    • (1999) New England Journal of Medicine , vol.341 , pp. 718-724
    • Olynyk, J.K.1    Cullen, D.J.2    Aquilia, S.3
  • 10
    • 1442282237 scopus 로고    scopus 로고
    • Evolution of untreated hereditary hemochromatosis in the Busselton population: A 17-year study
    • J.K. Olynyk S.E. Hagan D.J. Cullen et al. Evolution of untreated hereditary hemochromatosis in the Busselton population: A 17-year study Mayo Clinic Proceedings 79 2004 309-313
    • (2004) Mayo Clinic Proceedings , vol.79 , pp. 309-313
    • Olynyk, J.K.1    Hagan, S.E.2    Cullen, D.J.3
  • 11
    • 0037132786 scopus 로고    scopus 로고
    • Penetrance of the 845G6A (C282Y) HFE hereditary haemochromatosis mutation in the USA
    • E. Beutler V.J. Felitti J.A. Koziol et al. Penetrance of the 845G6A (C282Y) HFE hereditary haemochromatosis mutation in the USA Lancet 359 2002 211-218
    • (2002) Lancet , vol.359 , pp. 211-218
    • Beutler, E.1    Felitti, V.J.2    Koziol, J.A.3
  • 12
    • 18544376989 scopus 로고    scopus 로고
    • Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: A study of 9396 French people
    • Y. Deugnier A.M. Jouanolle J. Chaperon et al. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: A study of 9396 French people British Journal of Haematology 118 2002 1170-1178
    • (2002) British Journal of Haematology , vol.118 , pp. 1170-1178
    • Deugnier, Y.1    Jouanolle, A.M.2    Chaperon, J.3
  • 14
    • 0034707120 scopus 로고    scopus 로고
    • Disease-related conditions in relatives of patients with hemochromatosis
    • Z.J. Bulaj R.S. Ajioka J.D. Phillips et al. Disease-related conditions in relatives of patients with hemochromatosis New England Journal of Medicine 343 2000 1529-1535
    • (2000) New England Journal of Medicine , vol.343 , pp. 1529-1535
    • Bulaj, Z.J.1    Ajioka, R.S.2    Phillips, J.D.3
  • 15
    • 1642494711 scopus 로고    scopus 로고
    • Serum ferritin level predicts advanced hepatic fibrosis among US patients with phenotypic hemochromatosis
    • E.D. Morrison D.J. Brandhagen P.D. Phatak et al. Serum ferritin level predicts advanced hepatic fibrosis among US patients with phenotypic hemochromatosis Annals of Internal Medicine 138 2003 627-633
    • (2003) Annals of Internal Medicine , vol.138 , pp. 627-633
    • Morrison, E.D.1    Brandhagen, D.J.2    Phatak, P.D.3
  • 16
    • 0031707469 scopus 로고    scopus 로고
    • Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis
    • D. Guyader C. Jacquelinet R. Moirand et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis Gastroenterology 115 1998 929-936
    • (1998) Gastroenterology , vol.115 , pp. 929-936
    • Guyader, D.1    Jacquelinet, C.2    Moirand, R.3
  • 17
    • 0038714006 scopus 로고    scopus 로고
    • Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: Case control study of 492 French centenarians
    • H. Coppin M. Bensaid S. Fruchon et al. Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: Case control study of 492 French centenarians British Medical Journal 327 2003 132-133
    • (2003) British Medical Journal , vol.327 , pp. 132-133
    • Coppin, H.1    Bensaid, M.2    Fruchon, S.3
  • 18
    • 0043234486 scopus 로고    scopus 로고
    • You may live to the age of more than 100 years even if you are homozygous for a haemochromatosis gene mutation
    • K. Piippo J. Louhija R. Tilvis et al. You may live to the age of more than 100 years even if you are homozygous for a haemochromatosis gene mutation European Journal of Clinical Investigation 33 2003 830-831
    • (2003) European Journal of Clinical Investigation , vol.33 , pp. 830-831
    • Piippo, K.1    Louhija, J.2    Tilvis, R.3
  • 19
    • 0036428690 scopus 로고    scopus 로고
    • No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: The Leiden 85-plus Study
    • M.O. Van Aken A.J. De Craen J. Gussekloo et al. No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: The Leiden 85-plus Study European Journal of Clinical Investigation 32 2002 750-754
    • (2002) European Journal of Clinical Investigation , vol.32 , pp. 750-754
    • Van Aken, M.O.1    De Craen, A.J.2    Gussekloo, J.3
  • 20
    • 0035206994 scopus 로고    scopus 로고
    • A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin
    • P.L. Lee T. Gelbart C. West et al. A study of genes that may modulate the expression of hereditary hemochromatosis: Transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin Blood Cells, Molecules, and Diseases 27 2001 783-802
    • (2001) Blood Cells, Molecules, and Diseases , vol.27 , pp. 783-802
    • Lee, P.L.1    Gelbart, T.2    West, C.3
  • 21
    • 10744225120 scopus 로고    scopus 로고
    • Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
    • A.T. Merryweather-Clarke E. Cadet A. Bomford et al. Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis Human Molecular Genetics 12 2003 2241-2247
    • (2003) Human Molecular Genetics , vol.12 , pp. 2241-2247
    • Merryweather-Clarke, A.T.1    Cadet, E.2    Bomford, A.3
  • 22
    • 1642367900 scopus 로고    scopus 로고
    • HAMP as a modifier gene that increase the phenotypic expression of the HFE p.C282Y homozygous genotype
    • S. Jacolot G. Le Gac V. Scotet et al. HAMP as a modifier gene that increase the phenotypic expression of the HFE p.C282Y homozygous genotype Blood 103 2004 2835-2840
    • (2004) Blood , vol.103 , pp. 2835-2840
    • Jacolot, S.1    Le Gac, G.2    Scotet, V.3
  • 23
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • G. Le Gac V. Scotet C. Ka et al. The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype Human Molecular Genetics 13 2004 1913-1918
    • (2004) Human Molecular Genetics , vol.13 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3
  • 24
    • 0033774945 scopus 로고    scopus 로고
    • The haptoglobin 2-2 phenotype affects serum markers of iron status in healthy males
    • M.R. Langlois M.E. Martin J.R. Boelaert et al. The haptoglobin 2-2 phenotype affects serum markers of iron status in healthy males Clinical Chemistry 46 2000 1619-1625
    • (2000) Clinical Chemistry , vol.46 , pp. 1619-1625
    • Langlois, M.R.1    Martin, M.E.2    Boelaert, J.R.3
  • 25
    • 0035742771 scopus 로고    scopus 로고
    • Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients
    • H. Van Vlierberghe M. Langlois J. Delanghe et al. Haptoglobin phenotype 2-2 overrepresentation in Cys282Tyr hemochromatotic patients Journal of Hepatology 35 2001 707-711
    • (2001) Journal of Hepatology , vol.35 , pp. 707-711
    • Van Vlierberghe, H.1    Langlois, M.2    Delanghe, J.3
  • 26
    • 0036893006 scopus 로고    scopus 로고
    • Haptoglobin polymorphism and iron homeostasis
    • E. Beutler T. Gelbart & P. Lee Haptoglobin polymorphism and iron homeostasis Clinical Chemistry 48 2002 2232-2235
    • (2002) Clinical Chemistry , vol.48 , pp. 2232-2235
    • Beutler, E.1    Gelbart, T.2    Lee, P.3
  • 27
    • 0038824897 scopus 로고    scopus 로고
    • Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: Phenotype and genotype analysis
    • K. Carter D.J. Bowen C.A. McCune et al. Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: Phenotype and genotype analysis British Journal of Haematology 122 2003 326-332
    • (2003) British Journal of Haematology , vol.122 , pp. 326-332
    • Carter, K.1    Bowen, D.J.2    McCune, C.A.3
  • 28
    • 9144251568 scopus 로고    scopus 로고
    • The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading
    • K.J. Livesey V.L. Wimhurst K. Carter et al. The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading Journal of Medical Genetics 41 2004 6-10
    • (2004) Journal of Medical Genetics , vol.41 , pp. 6-10
    • Livesey, K.J.1    Wimhurst, V.L.2    Carter, K.3
  • 30
    • 0034954325 scopus 로고    scopus 로고
    • Effects of alcohol consumption on indices of iron stores and of iron stores on alcohol intake markers
    • J.B. Whitfield G. Zhu A.C. Heath et al. Effects of alcohol consumption on indices of iron stores and of iron stores on alcohol intake markers Alcoholism - Clinical and Experimental Research 25 2001 1037-1045
    • (2001) Alcoholism - Clinical and Experimental Research , vol.25 , pp. 1037-1045
    • Whitfield, J.B.1    Zhu, G.2    Heath, A.C.3
  • 31
    • 0037818787 scopus 로고    scopus 로고
    • Hereditary hemochromatosis: Effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation
    • V. Scotet M.C. Merour A.Y. Mercier et al. Hereditary hemochromatosis: effect of excessive alcohol consumption on disease expression in patients homozygous for the C282Y mutation American Journal of Epidemiology 158 2003 129-134
    • (2003) American Journal of Epidemiology , vol.158 , pp. 129-134
    • Scotet, V.1    Merour, M.C.2    Mercier, A.Y.3
  • 32
    • 0041382554 scopus 로고    scopus 로고
    • Hemochromatosis and alcoholic liver disease
    • L.M. Fletcher & L.W. Powell Hemochromatosis and alcoholic liver disease Alcohol 30 2003 131-136
    • (2003) Alcohol , vol.30 , pp. 131-136
    • Fletcher, L.M.1    Powell, L.W.2
  • 34
    • 0002878060 scopus 로고    scopus 로고
    • Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients
    • P.D. Phatak D.H. Ryan J. Cappuccio et al. Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients Blood Cells, Molecules, and Diseases 29 2002 41-47
    • (2002) Blood Cells, Molecules, and Diseases , vol.29 , pp. 41-47
    • Phatak, P.D.1    Ryan, D.H.2    Cappuccio, J.3
  • 35
    • 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, E.1
  • 36
    • 0346873990 scopus 로고    scopus 로고
    • Haemochromatosis-associated HFE genotypes in English blood donors: Age-related frequency and biochemical expression
    • V. Chambers L. Sutherland K. Palmer et al. Haemochromatosis-associated HFE genotypes in English blood donors: Age-related frequency and biochemical expression Journal of Hepatology 39 2003 925-931
    • (2003) Journal of Hepatology , vol.39 , pp. 925-931
    • Chambers, V.1    Sutherland, L.2    Palmer, K.3
  • 37
    • 0031793132 scopus 로고    scopus 로고
    • The significance of haemochromatosis gene mutations in the general population: Implications for screening
    • M.J. Burt P.M. George J.D. Upton et al. The significance of haemochromatosis gene mutations in the general population: Implications for screening Gut 43 1998 830-836
    • (1998) Gut , vol.43 , pp. 830-836
    • Burt, M.J.1    George, P.M.2    Upton, J.D.3
  • 38
    • 0034883430 scopus 로고    scopus 로고
    • HFE mutations, iron deficiency and overload in 10500 blood donors
    • H.A. Jackson K. Carter C. Darke et al. HFE mutations, iron deficiency and overload in 10500 blood donors British Journal of Haematology 114 2001 474-484
    • (2001) British Journal of Haematology , vol.114 , pp. 474-484
    • Jackson, H.A.1    Carter, K.2    Darke, C.3
  • 39
    • 0031839335 scopus 로고    scopus 로고
    • The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population
    • A.T. Merryweather-Clarke M. Worwood L. Parkinson et al. The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population British Journal of Haematology 101 1998 369-373
    • (1998) British Journal of Haematology , vol.101 , pp. 369-373
    • Merryweather-Clarke, A.T.1    Worwood, M.2    Parkinson, L.3
  • 40
    • 0037366790 scopus 로고    scopus 로고
    • A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism
    • O.T. Njajou J.J. Houwing-Duistermaat R.H. Osborne et al. A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism European Journal of Human Genetics 11 2003 225-231
    • (2003) European Journal of Human Genetics , vol.11 , pp. 225-231
    • Njajou, O.T.1    Houwing-Duistermaat, J.J.2    Osborne, R.H.3
  • 41
    • 0344837836 scopus 로고    scopus 로고
    • Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry
    • E. Beutler V. Felitti T. Gelbart et al. Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry British Journal of Haematology 120 2003 887-893
    • (2003) British Journal of Haematology , vol.120 , pp. 887-893
    • Beutler, E.1    Felitti, V.2    Gelbart, T.3
  • 42
    • 0031700041 scopus 로고    scopus 로고
    • Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: A protective role against iron deficiency?
    • C. Datz T. Haas H. Rinner et al. Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: A protective role against iron deficiency? Clinical Chemistry 44 1998 2429-2432
    • (1998) Clinical Chemistry , vol.44 , pp. 2429-2432
    • Datz, C.1    Haas, T.2    Rinner, H.3
  • 43
    • 0035133172 scopus 로고    scopus 로고
    • Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population
    • E. Rossi M.K. Bulsara J.K. Olynyk et al. Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population Clinical Chemistry 47 2001 202-208
    • (2001) Clinical Chemistry , vol.47 , pp. 202-208
    • Rossi, E.1    Bulsara, M.K.2    Olynyk, J.K.3
  • 45
    • 1642566560 scopus 로고    scopus 로고
    • Hemochromatosis and the enigma of misplaced iron: Implications for infectious disease and survival
    • S. Moalem E.D. Weinberg & M.E. Percy Hemochromatosis and the enigma of misplaced iron: Implications for infectious disease and survival Biometals 17 2004 135-139
    • (2004) Biometals , vol.17 , pp. 135-139
    • Moalem, S.1    Weinberg, E.D.2    Percy, M.E.3
  • 46
    • 0037701646 scopus 로고    scopus 로고
    • Typical type 2 diabetes mellitus and HFE gene mutations: A population-based case-control study
    • D.J. Halsall I. McFarlane J. Luan et al. Typical type 2 diabetes mellitus and HFE gene mutations: A population-based case-control study Human Molecular Genetics 12 2003 1361-1365
    • (2003) Human Molecular Genetics , vol.12 , pp. 1361-1365
    • Halsall, D.J.1    McFarlane, I.2    Luan, J.3
  • 48
    • 12244312751 scopus 로고    scopus 로고
    • Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis
    • J.M. Ross R.M. Kowalchuk J. Shaulinsky et al. Association of heterozygous hemochromatosis C282Y gene mutation with hand osteoarthritis Journal of Rheumatology 30 2003 121-125
    • (2003) Journal of Rheumatology , vol.30 , pp. 121-125
    • Ross, J.M.1    Kowalchuk, R.M.2    Shaulinsky, J.3
  • 49
    • 0036100404 scopus 로고    scopus 로고
    • HFE mutations in an inflammatory arthritis population
    • G. Willis D.G. Scott B.A. Jennings et al. HFE mutations in an inflammatory arthritis population Rheumatology (Oxford) 41 2002 176-179
    • (2002) Rheumatology (Oxford) , vol.41 , pp. 176-179
    • Willis, G.1    Scott, D.G.2    Jennings, B.A.3
  • 50
    • 0033592398 scopus 로고    scopus 로고
    • Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation - A prospective cohort study in men in eastern Finland
    • T.P. Tuomainen K. Kontula K. Nyyssonen et al. Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation - a prospective cohort study in men in eastern Finland Circulation 100 1999 1274-1279
    • (1999) Circulation , vol.100 , pp. 1274-1279
    • Tuomainen, T.P.1    Kontula, K.2    Nyyssonen, K.3
  • 51
    • 0033592395 scopus 로고    scopus 로고
    • Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women
    • M. Roest Y.T. van der Schouw B. de Valk et al. Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women Circulation 100 1999 1268-1273
    • (1999) Circulation , vol.100 , pp. 1268-1273
    • Roest, M.1    van der Schouw, Y.T.2    de Valk, B.3
  • 52
    • 0035864617 scopus 로고    scopus 로고
    • A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: The atherosclerosis risk in communities (ARIC) study
    • M.L. Rasmussen A.R. Folsom D.J. Catellier et al. A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: The atherosclerosis risk in communities (ARIC) study Atherosclerosis 154 2001 739-746
    • (2001) Atherosclerosis , vol.154 , pp. 739-746
    • Rasmussen, M.L.1    Folsom, A.R.2    Catellier, D.J.3
  • 53
    • 14544289009 scopus 로고    scopus 로고
    • Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: A study in 1279 patients undergoing coronary angiography
    • R. Surber H.H. Sigusch H. Kuehnert et al. Haemochromatosis (HFE) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: A study in 1279 patients undergoing coronary angiography Journal of Medical Genetics 40 2003 E58
    • (2003) Journal of Medical Genetics , vol.40
    • Surber, R.1    Sigusch, H.H.2    Kuehnert, H.3
  • 54
    • 0037109598 scopus 로고    scopus 로고
    • Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center
    • J. Waalen V. Felitti T. Gelbart et al. Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center American Journal of Medicine 113 2002 472-479
    • (2002) American Journal of Medicine , vol.113 , pp. 472-479
    • Waalen, J.1    Felitti, V.2    Gelbart, T.3
  • 55
    • 1342301527 scopus 로고    scopus 로고
    • Haemochromatosis gene mutations and risk of coronary heart disease: A west of Scotland coronary prevention study (WOSCOPS) substudy
    • I.R. Gunn F.K. Maxwell D. Gaffney et al. Haemochromatosis gene mutations and risk of coronary heart disease: A west of Scotland coronary prevention study (WOSCOPS) substudy Heart 90 2004 304-306
    • (2004) Heart , vol.90 , pp. 304-306
    • Gunn, I.R.1    Maxwell, F.K.2    Gaffney, D.3
  • 56
    • 0042328308 scopus 로고    scopus 로고
    • The prevalence of haemochromatosis gene mutations in the West of Scotland and their relation to ischaemic heart disease
    • S. Campbell D.K. George S.D. Robb et al. The prevalence of haemochromatosis gene mutations in the West of Scotland and their relation to ischaemic heart disease Heart 89 2003 1023-1026
    • (2003) Heart , vol.89 , pp. 1023-1026
    • Campbell, S.1    George, D.K.2    Robb, S.D.3
  • 57
    • 0037440257 scopus 로고    scopus 로고
    • Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer
    • N.J. Shaheen L.M. Silverman T. Keku et al. Association between hemochromatosis (HFE) gene mutation carrier status and the risk of colon cancer Journal of the National Cancer Institute 95 2003 154-159
    • (2003) Journal of the National Cancer Institute , vol.95 , pp. 154-159
    • Shaheen, N.J.1    Silverman, L.M.2    Keku, T.3
  • 58
    • 0032824102 scopus 로고    scopus 로고
    • Colorectal cancer and HFE gene mutations
    • A. Altes E. Gimferrer G. Capella et al. Colorectal cancer and HFE gene mutations Haematologica 84 1999 479-480
    • (1999) Haematologica , vol.84 , pp. 479-480
    • Altes, A.1    Gimferrer, E.2    Capella, G.3
  • 59
    • 0036178647 scopus 로고    scopus 로고
    • Prevalence of HFE genotypes, C282Y and H63D in patients with hematologic disorders
    • J. Hannuksela E.R. Savolainen P. Koistinen et al. Prevalence of HFE genotypes, C282Y and H63D in patients with hematologic disorders Haematologica 87 2002 131-135
    • (2002) Haematologica , vol.87 , pp. 131-135
    • Hannuksela, J.1    Savolainen, E.R.2    Koistinen, P.3
  • 61
    • 0036291809 scopus 로고    scopus 로고
    • HFE mutations, hepatic iron, and fibrosis: Ethnic-specific association of NASH with C282Y but not with fibrotic severity
    • S. Chitturi M. Weltman G.C. Farrell et al. HFE mutations, hepatic iron, and fibrosis: Ethnic-specific association of NASH with C282Y but not with fibrotic severity Hepatology 36 2002 142-149
    • (2002) Hepatology , vol.36 , pp. 142-149
    • Chitturi, S.1    Weltman, M.2    Farrell, G.C.3
  • 62
    • 0141656292 scopus 로고    scopus 로고
    • Increased susceptibilty to nonalcoholic fatty liver disease in heterozygotes for the mutation responsiple for hereditary hemochromatosis
    • Valenti, L, Dongiovanni P, Fracazani AL et al. Increased susceptibilty to nonalcoholic fatty liver disease in heterozygotes for the mutation responsiple for hereditary hemochromatosis. Digestive and Liver Diseases 2003; 35: 172-178.
    • (2003) Digestive and Liver Diseases , vol.35 , pp. 172-178
    • Valenti, L.1    Dongiovanni, P.2    Fracazani, A.L.3
  • 63
    • 0032947967 scopus 로고    scopus 로고
    • The relation of iron status and hemochromatosis gene mutations in patients with chronic hepatitis C
    • L. Kazemi-Shirazi C. Datz T. Maier-Dobersberger et al. The relation of iron status and hemochromatosis gene mutations in patients with chronic hepatitis C Gastroenterology 116 1999 127-134
    • (1999) Gastroenterology , vol.116 , pp. 127-134
    • Kazemi-Shirazi, L.1    Datz, C.2    Maier-Dobersberger, T.3
  • 64
    • 0035851274 scopus 로고    scopus 로고
    • Association of mutations in the hemochromatosis gene with shorter life expectancy
    • L. Bathum L. Christiansen H. Nybo et al. Association of mutations in the hemochromatosis gene with shorter life expectancy Archives of Internal Medicine 161 2001 2441-2444
    • (2001) Archives of Internal Medicine , vol.161 , pp. 2441-2444
    • Bathum, L.1    Christiansen, L.2    Nybo, H.3
  • 66
    • 2442695048 scopus 로고    scopus 로고
    • No age-related decrease in frequency of heterozygotes for the HFE C282Y haemochromatosis mutation
    • J. Waalen & E. Beutler No age-related decrease in frequency of heterozygotes for the HFE C282Y haemochromatosis mutation Journal of Hepatology 40 2004 1044
    • (2004) Journal of Hepatology , vol.40 , pp. 1044
    • Waalen, J.1    Beutler, E.2
  • 67
    • 0034056799 scopus 로고    scopus 로고
    • Population screening for hemochromatosis: A comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors
    • P.C. Adams A.E. Kertesz C.E. McLaren et al. Population screening for hemochromatosis: A comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5,211 voluntary blood donors Hepatology 31 2000 1160-1164
    • (2000) Hepatology , vol.31 , pp. 1160-1164
    • Adams, P.C.1    Kertesz, A.E.2    McLaren, C.E.3
  • 68
    • 0035960427 scopus 로고    scopus 로고
    • Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: A retrospective study
    • C. Ellervik T. Mandrup-Poulsen B.G. Nordestgaard et al. Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: A retrospective study Lancet 358 2001 1405-1409
    • (2001) Lancet , vol.358 , pp. 1405-1409
    • Ellervik, C.1    Mandrup-Poulsen, T.2    Nordestgaard, B.G.3
  • 69
    • 0035795607 scopus 로고    scopus 로고
    • Prevalence of CY282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States
    • K.K. Steinberg M.E. Cogswell J.C. Chang et al. Prevalence of CY282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States Journal of the American Medical Association 285 2001 2216-2222
    • (2001) Journal of the American Medical Association , vol.285 , pp. 2216-2222
    • Steinberg, K.K.1    Cogswell, M.E.2    Chang, J.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.