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Volumn 2009, Issue , 2009, Pages

HFE -related hemochromatosis: The haptoglobin 2-2 type has a significant but limited influence on phenotypic expression of the predominant p.C282Y homozygous genotype

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; HAPTOGLOBIN; HEMOGLOBIN; IRON;

EID: 77953454589     PISSN: 16879104     EISSN: 16879112     Source Type: Journal    
DOI: 10.1155/2009/251701     Document Type: Article
Times cited : (6)

References (24)
  • 1
    • 0033848697 scopus 로고    scopus 로고
    • EASL international consensus conference on haemochromatosis
    • Adams P. C., Brissot P., Powell L. W., EASL International consensus conference on haemochromatosis Journal of Hepatology 2000 33 3 485 504
    • (2000) Journal of Hepatology , vol.33 , Issue.3 , pp. 485-504
    • Adams, P.C.1    Brissot, P.2    Powell, L.W.3
  • 2
    • 0037164344 scopus 로고    scopus 로고
    • Genetics of haemochromatosis
    • DOI 10.1016/S0140-6736(02)11607-2
    • Bomford A., Genetics of haemochromatosis The Lancet 2002 360 9346 1673 1681 (Pubitemid 35379742)
    • (2002) Lancet , vol.360 , Issue.9346 , pp. 1673-1681
    • Bomford, A.1
  • 3
    • 2542560427 scopus 로고    scopus 로고
    • Hereditary hemochromatosis - A new look at an old disease
    • DOI 10.1056/NEJMra031573
    • Pietrangelo A., Hereditary hemochromatosisa new look at an old disease The New England Journal of Medicine 2004 350 23 2383 2397 (Pubitemid 38702849)
    • (2004) New England Journal of Medicine , vol.350 , Issue.23
    • Pietrangelo, A.1
  • 4
    • 33644790930 scopus 로고    scopus 로고
    • The molecular genetics of haemochromatosis
    • Le Gac G., Frec C., The molecular genetics of haemochromatosis European Journal of Human Genetics 2005 13 11 1172 1185
    • (2005) European Journal of Human Genetics , vol.13 , Issue.11 , pp. 1172-1185
    • Le Gac, G.1    Frec, C.2
  • 9
    • 26244440542 scopus 로고    scopus 로고
    • Phenotype variation in C282Y homozygotes for the hemochromatosis gene
    • DOI 10.1016/S1542-3565(05)00413-1, PII S1542356505004131
    • Lazarescu A., Snively B. M., Adams P. C., Phenotype variation in C282Y homozygotes for the hemochromatosis gene Clinical Gastroenterology and Hepatology 2005 3 10 1043 1046 (Pubitemid 41415754)
    • (2005) Clinical Gastroenterology and Hepatology , vol.3 , Issue.10 , pp. 1043-1046
    • Lazarescu, A.1    Snively, B.M.2    Adams, P.C.3
  • 11
    • 0036241178 scopus 로고    scopus 로고
    • Haptoglobin polymorphism and body iron stores
    • DOI 10.1515/CCLM.2002.035
    • Delanghe J. R., Langlois M. R., Haptoglobin polymorphism and body iron stores Clinical Chemistry and Laboratory Medicine 2002 40 3 212 216 (Pubitemid 34428848)
    • (2002) Clinical Chemistry and Laboratory Medicine , vol.40 , Issue.3 , pp. 212-216
    • Delanghe, J.R.1    Langlois, M.R.2
  • 12
    • 7044229715 scopus 로고    scopus 로고
    • Prohaptoglobin is proteolytically in the endoplasmic reticulum by the complement C1r-like protein
    • DOI 10.1073/pnas.0405692101
    • Wicher K. B., Fries E., Prohaptoglobin is proteolytically in the endoplasmic reticulum by the complement C1r-like protein Proceedings of the National Academy of Sciences of the United States of America 2004 101 40 14390 14395 (Pubitemid 39346759)
    • (2004) Proceedings of the National Academy of Sciences of the United States of America , vol.101 , Issue.40 , pp. 14390-14395
    • Wicher, K.B.1    Fries, E.2
  • 14
    • 0033774945 scopus 로고    scopus 로고
    • The haptoglobin 2-2 phenotype affects serum markers of iron status in healthy males
    • Langlois M. R., Martin M.-E., Boelaert J. R. et al., The haptoglobin 2-2 phenotype affects serum markers of iron status in healthy males Clinical Chemistry 2000 46 10 1619 1625
    • (2000) Clinical Chemistry , vol.46 , Issue.10 , pp. 1619-1625
    • Langlois, M.R.1    Martin, M.-E.2    Boelaert, J.R.3
  • 16
    • 0036893006 scopus 로고    scopus 로고
    • Haptoglobin polymorphism and iron homeostasis
    • Beutler E., Gelbart T., Lee P., Haptoglobin polymorphism and iron homeostasis Clinical Chemistry 2002 48 12 2232 2235 (Pubitemid 35397567)
    • (2002) Clinical Chemistry , vol.48 , Issue.12 , pp. 2232-2235
    • Beutler, E.1    Gelbart, T.2    Lee, P.3
  • 17
    • 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
    • DOI 10.1046/j.1365-2141.2003.04436.x
    • Carter K., Bowen D. J., McCune C. A., Worwood M., 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 2003 122 2 326 332 (Pubitemid 36859621)
    • (2003) British Journal of Haematology , vol.122 , Issue.2 , pp. 326-332
    • Carter, K.1    Bowen, D.J.2    McCune, C.A.3    Worwood, M.4
  • 19
    • 1642367900 scopus 로고    scopus 로고
    • HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype
    • DOI 10.1182/blood-2003-10-3366
    • Jacolot S., Le Gac G., Scotet V., Quere I., Mura C., Ferec C., HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype Blood 2004 103 7 2835 2840 (Pubitemid 38393047)
    • (2004) Blood , vol.103 , Issue.7 , pp. 2835-2840
    • Jacolot, S.1    Le Gac, G.2    Scotet, V.3    Quere, I.4    Mura, C.5    Ferec, C.6
  • 20
    • 4544314123 scopus 로고    scopus 로고
    • The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype
    • DOI 10.1093/hmg/ddh206
    • Le Gac G., Scotet V., Ka C. et al., The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype Human Molecular Genetics 2004 13 17 1913 1918 (Pubitemid 39214339)
    • (2004) Human Molecular Genetics , vol.13 , Issue.17 , pp. 1913-1918
    • Le Gac, G.1    Scotet, V.2    Ka, C.3    Gourlaouen, I.4    Bryckaert, L.5    Jacolot, S.6    Mura, C.7    Ferec, C.8
  • 21
    • 0036163634 scopus 로고    scopus 로고
    • Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis
    • Fletcher L. M., Dixon J. L., Purdie D. M. et al., Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis Gastroenterology 2002 122 2 281 289 (Pubitemid 34116981)
    • (2002) Gastroenterology , vol.122 , Issue.2 , pp. 281-289
    • Fletcher, L.M.1    Dixon, J.L.2    Purdie, D.M.3    Powell, L.W.4    Crawford, D.H.G.5
  • 23
    • 0029854812 scopus 로고    scopus 로고
    • Biological and clinical significance of haptoglobin polymorphism in humans
    • Langlois M. R., Delanghe J. R., Biological and clinical significance of haptoglobin polymorphism in humans Clinical Chemistry 1996 42 10 1589 1600 (Pubitemid 26354735)
    • (1996) Clinical Chemistry , vol.42 , Issue.10 , pp. 1589-1600
    • Langlois, M.R.1    Delanghe, J.R.2
  • 24
    • 0029927660 scopus 로고    scopus 로고
    • Alcoholism in hereditary hemochromatosis revisited: Prevalence and clinical consequences among homozygous siblings
    • DOI 10.1053/jhep.1996.v23.pm0008666324
    • Adams P. C., Agnew S., Alcoholism in hereditary hemochromatosis revisited: prevalence and clinical consequences among homozygous siblings Hepatology 1996 23 4 724 727 (Pubitemid 26111984)
    • (1996) Hepatology , vol.23 , Issue.4 , pp. 724-727
    • Adams, P.C.1    Agnew, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.