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Volumn 52, Issue 3, 2003, Pages 433-435

Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; HFE PROTEIN; SERINE;

EID: 0037371187     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.52.3.433     Document Type: Article
Times cited : (23)

References (20)
  • 1
    • 0032845303 scopus 로고    scopus 로고
    • Prevalence of the C282Y mutation of the hemochromatosis gene in liver transplant recipients and donors
    • Alanen KW, Chakrabati S, Rawlins JJ, et al. Prevalence of the C282Y mutation of the hemochromatosis gene in liver transplant recipients and donors. Hepatology 1999;30:665-9.
    • (1999) Hepatology , vol.30 , pp. 665-669
    • Alanen, K.W.1    Chakrabati, S.2    Rawlins, J.J.3
  • 2
    • 0033862920 scopus 로고    scopus 로고
    • Uncommon mutations and polymorphisms in the haemochromatosis gene
    • Pointon JJ, Wallace D, Merryweather-Clarke AT, et al. Uncommon mutations and polymorphisms in the haemochromatosis gene. Genetic Testing 2000;4:151-61.
    • (2000) Genetic Testing , vol.4 , pp. 151-161
    • Pointon, J.J.1    Wallace, D.2    Merryweather-Clarke, A.T.3
  • 3
    • 0033868022 scopus 로고    scopus 로고
    • Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis
    • Piperno A, Arosio C, Fossati L, et al. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis. Gastroenterology 2000;119:441-5.
    • (2000) Gastroenterology , vol.119 , pp. 441-445
    • Piperno, A.1    Arosio, C.2    Fossati, L.3
  • 4
    • 0036177789 scopus 로고    scopus 로고
    • A homozygous HFE gene splice site mutation in a hereditary hemochromatosis patient of Vietnamese origin
    • Steiner M, Ocran K, Genschel J, et al. A homozygous HFE gene splice site mutation in a hereditary hemochromatosis patient of Vietnamese origin. Gastroenterology 2002;122:789-95.
    • (2002) Gastroenterology , vol.122 , pp. 789-795
    • Steiner, M.1    Ocran, K.2    Genschel, J.3
  • 5
    • 0025013749 scopus 로고
    • Mutation of the signal petide-encoding region of the preproparathyroid gene in familial isolated hypoparathyroidism
    • Arnold A, Horst SA, Gardella TJ, et al. Mutation of the signal petide-encoding region of the preproparathyroid gene in familial isolated hypoparathyroidism. J Clin Invest 1990;86:1084-7.
    • (1990) J Clin Invest , vol.86 , pp. 1084-1087
    • Arnold, A.1    Horst, S.A.2    Gardella, T.J.3
  • 6
    • 0032605144 scopus 로고    scopus 로고
    • Screen of 55 Slovevian hemophilia A patients: Identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum
    • Strmecki L, Benedik-Dolincar M, Vouk K, et al. Screen of 55 Slovevian hemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G→A) and discussion of mutation spectrum. Hum Mutat 1999;13:413.
    • (1999) Hum Mutat , vol.13 , pp. 413
    • Strmecki, L.1    Benedik-Dolincar, M.2    Vouk, K.3
  • 7
    • 0033055180 scopus 로고    scopus 로고
    • Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolaemia phenotype in the indigenous South African population of mixed ancestry
    • Loubser O, Marais AD, Kotze MJ, et al. Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolaemia phenotype in the indigenous South African population of mixed ancestry. Clin Genet 1999;55:340-5.
    • (1999) Clin Genet , vol.55 , pp. 340-345
    • Loubser, O.1    Marais, A.D.2    Kotze, M.J.3
  • 8
    • 0031969395 scopus 로고    scopus 로고
    • Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation
    • Crawford DHG, Jazwinska EC, Cullen LM, et al. Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation. Gastroenterology 1998;114:1003-8.
    • (1998) Gastroenterology , vol.114 , pp. 1003-1008
    • Crawford, D.H.G.1    Jazwinska, E.C.2    Cullen, L.M.3
  • 9
    • 0033812756 scopus 로고    scopus 로고
    • Exclusion of ZIRTL as candidate gene of juveile hemochromatosis and refinement of the critical interval on 1q21
    • Roetto A, Alberti F, Daraio F, et al. Exclusion of ZIRTL as candidate gene of juveile hemochromatosis and refinement of the critical interval on 1q21. Blood Cells Mol Dis 2000;26:205-10.
    • (2000) Blood Cells Mol Dis , vol.26 , pp. 205-210
    • Roetto, A.1    Alberti, F.2    Daraio, F.3
  • 10
    • 0036242163 scopus 로고    scopus 로고
    • Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
    • Girelli D, Bozzini C, Roetto A. Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. Gastroenterology 2002;122:1295-302.
    • (2002) Gastroenterology , vol.122 , pp. 1295-1302
    • Girelli, D.1    Bozzini, C.2    Roetto, A.3
  • 11
    • 0034930197 scopus 로고    scopus 로고
    • A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
    • Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 2001;28:213-14.
    • (2001) Nat Genet , vol.28 , pp. 213-214
    • Njajou, O.T.1    Vaessen, N.2    Joosse, M.3
  • 12
    • 17944380796 scopus 로고    scopus 로고
    • Autosomal dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    • Monlosi G, Donovan A, Totaro A, et al. Autosomal dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest 2001;108:619-23.
    • (2001) J Clin Invest , vol.108 , pp. 619-623
    • Monlosi, G.1    Donovan, A.2    Totaro, A.3
  • 13
    • 0037100517 scopus 로고    scopus 로고
    • Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis
    • Wallace DF, Pederson P, Dixon JL, et al. Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood 2002;100:692-4.
    • (2002) Blood , vol.100 , pp. 692-694
    • Wallace, D.F.1    Pederson, P.2    Dixon, J.L.3
  • 14
    • 0037100382 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
    • Devalia V, Carter K, Walker AP, et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3). Blood 2002;100:695-7.
    • (2002) Blood , vol.100 , pp. 695-697
    • Devalia, V.1    Carter, K.2    Walker, A.P.3
  • 15
    • 0027080655 scopus 로고
    • Does transplantation of the liver cure genetic hemochromatosis?
    • Powell LW. Does transplantation of the liver cure genetic hemochromatosis? J Hepatol 1992;16:259-61.
    • (1992) J Hepatol , vol.16 , pp. 259-261
    • Powell, L.W.1
  • 16
    • 0025157840 scopus 로고
    • Liver transplantation in idiopathic hemochromatosis
    • Dietze O, Vogel W, Braunsperger B, et al. Liver transplantation in idiopathic hemochromatosis. Transplant Proc 1990;22:1512-13.
    • (1990) Transplant Proc , vol.22 , pp. 1512-1513
    • Dietze, O.1    Vogel, W.2    Braunsperger, B.3
  • 17
    • 0025823662 scopus 로고
    • Transplantation of a donor liver with haemochromatosis: Evidence against an inherited intrahepatic defect
    • Adams PC, Ghent CN, Grant DR, et al. Transplantation of a donor liver with haemochromatosis: evidence against an inherited intrahepatic defect. Gut 1991;32:1082-3.
    • (1991) Gut , vol.32 , pp. 1082-1083
    • Adams, P.C.1    Ghent, C.N.2    Grant, D.R.3
  • 18
    • 0027308757 scopus 로고
    • Site of principal metabolic defect in idiopathic haemochromatosis:Insights from transplantation of an affected organ
    • Dabkowski PL, Angus PW, Smallwood RA, et al. Site of principal metabolic defect in idiopathic haemochromatosis:insights from transplantation of an affected organ. BMJ 1993:306:1726.
    • (1993) BMJ , vol.306 , pp. 1726
    • Dabkowski, P.L.1    Angus, P.W.2    Smallwood, R.A.3
  • 19
    • 0027056118 scopus 로고
    • Persistent iron overload 4 years after inadvertent transplantation of a haemochromatotic liver in a patient with primary biliary cirrhosis
    • Koskinas J, Portmann B, Lombard M, et al. Persistent iron overload 4 years after inadvertent transplantation of a haemochromatotic liver in a patient with primary biliary cirrhosis. J Hepatol 1992;16:351-4.
    • (1992) J Hepatol , vol.16 , pp. 351-354
    • Koskinas, J.1    Portmann, B.2    Lombard, M.3
  • 20
    • 0032694434 scopus 로고    scopus 로고
    • Transplantation of haemochromatosis liver and intestine into a normal recipient
    • Adams PC, Jeffrey G, Alanen K, et al. Transplantation of haemochromatosis liver and intestine into a normal recipient. Gut 1999;45:783.
    • (1999) Gut , vol.45 , pp. 783
    • Adams, P.C.1    Jeffrey, G.2    Alanen, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.