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Volumn 18, Issue 2 SPEC. ISS., 2005, Pages 251-263

Role of ferritin and ferroportin genes in unexplained hyperferritinaemia

Author keywords

Cataract; Ferritin; Ferroportin; Hyperferritinaemia; Iron

Indexed keywords

FERRITIN; FERROPORTIN 1; MESSENGER RNA;

EID: 14544267566     PISSN: 15216926     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beha.2004.08.025     Document Type: Review
Times cited : (33)

References (60)
  • 1
    • 0027452550 scopus 로고
    • Regulating the fate of mRNA: The control of cellular iron metabolism
    • R.D. Klausner T.A. Rouault & J.B. Harford Regulating the fate of mRNA: The control of cellular iron metabolism Cell 72 1993 19-28
    • (1993) Cell , vol.72 , pp. 19-28
    • Klausner, R.D.1    Rouault, T.A.2    Harford, J.B.3
  • 2
    • 0030608152 scopus 로고    scopus 로고
    • The ferritins: Molecular properties, iron storage function and cellular regulation
    • P.M. Harrison & P. Arosio The ferritins: Molecular properties, iron storage function and cellular regulation Biochimica Biophysica Acta 1275 1996 161-203
    • (1996) Biochimica Biophysica Acta , vol.1275 , pp. 161-203
    • Harrison, P.M.1    Arosio, P.2
  • 4
    • 0023155810 scopus 로고
    • Human serum ferritin G-peptide is recognized by anti-Lferritin subunit antibodies and concanavalin-A
    • P. Santambrogio A. Cozzi S. Levi & P. Arosio Human serum ferritin G-peptide is recognized by anti-Lferritin subunit antibodies and concanavalin-A British Journal of Haematology 65 1987 235-237
    • (1987) British Journal of Haematology , vol.65 , pp. 235-237
    • Santambrogio, P.1    Cozzi, A.2    Levi, S.3    Arosio, P.4
  • 6
    • 0018671569 scopus 로고
    • Serum ferritin as a possible marker of the hemochromatosis allele
    • C. Beaumont M. Simon R. Fauchet et al. Serum ferritin as a possible marker of the hemochromatosis allele N Engl J Med 301 1979 169
    • (1979) N. Engl. J. Med. , vol.301 , pp. 169
    • Beaumont, C.1    Simon, M.2    Fauchet, R.3
  • 7
    • 0034210637 scopus 로고    scopus 로고
    • Translational pathophysiology: A novel molecular mechanism of human disease
    • M. Cazzola & R.C. Skoda Translational pathophysiology: A novel molecular mechanism of human disease Blood 95 2000 3280-3288
    • (2000) Blood , vol.95 , pp. 3280-3288
    • Cazzola, M.1    Skoda, R.C.2
  • 9
    • 0029148586 scopus 로고
    • A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract
    • D. Girelli O. Olivieri L. De Franceschi et al. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract British Journal of Haematology 90 1995 931-934
    • (1995) British Journal of Haematology , vol.90 , pp. 931-934
    • Girelli, D.1    Olivieri, O.2    De Franceschi, L.3
  • 10
    • 0029156805 scopus 로고
    • Bilateral cataract and high serum ferritin: A new dominant genetic disorder?
    • D. Bonneau I. Winter-Fuseau M-N. Loiseau et al. Bilateral cataract and high serum ferritin: A new dominant genetic disorder? Journal of Medical Genetics 32 1995 778-779
    • (1995) Journal of Medical Genetics , vol.32 , pp. 778-779
    • Bonneau, D.1    Winter-Fuseau, I.2    Loiseau, M.-N.3
  • 11
    • 0028881134 scopus 로고
    • Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
    • C. Beaumont P. Leneuve I. Devaux et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract Nature Genetics 11 1995 444-446
    • (1995) Nature Genetics , vol.11 , pp. 444-446
    • Beaumont, C.1    Leneuve, P.2    Devaux, I.3
  • 12
    • 0028788201 scopus 로고
    • Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")
    • D. Girelli R. Corrocher L. Bisceglia et al. Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") Blood 86 1995 4050-4053
    • (1995) Blood , vol.86 , pp. 4050-4053
    • Girelli, D.1    Corrocher, R.2    Bisceglia, L.3
  • 13
    • 0029819042 scopus 로고    scopus 로고
    • A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome
    • P. Aguilar-Martinez C. Biron C. Masmejean et al. A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome Blood 88 1996 1895
    • (1996) Blood , vol.88 , pp. 1895
    • Aguilar-Martinez, P.1    Biron, C.2    Masmejean, C.3
  • 14
    • 0030811101 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA
    • M. Cazzola G. Bergamaschi L. Tonon et al. Hereditary hyperferritinemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA Blood 90 1997 814-821
    • (1997) Blood , vol.90 , pp. 814-821
    • Cazzola, M.1    Bergamaschi, G.2    Tonon, L.3
  • 15
    • 0030921671 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene
    • D. Girelli R. Corrocher L. Bisceglia et al. Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene Blood 90 1997 2084-2088
    • (1997) Blood , vol.90 , pp. 2084-2088
    • Girelli, D.1    Corrocher, R.2    Bisceglia, L.3
  • 16
    • 0031576914 scopus 로고    scopus 로고
    • Hereditares Hyperferritinämie-Katarakt-Syndrom
    • J.D. Merkt Hereditares Hyperferritinämie-Katarakt-Syndrom Deutsche Medizinische Wochenschrift 122 1997 504-506
    • (1997) Deutsche Medizinische Wochenschrift , vol.122 , pp. 504-506
    • Merkt, J.D.1
  • 17
    • 0030767125 scopus 로고    scopus 로고
    • Hyperferritinaemia in the absence of iron overload
    • J.D. Arnold A.D. Mumford J.O. Lindsay et al. Hyperferritinaemia in the absence of iron overload Gut 41 1997 408-410
    • (1997) Gut , vol.41 , pp. 408-410
    • Arnold, J.D.1    Mumford, A.D.2    Lindsay, J.O.3
  • 18
    • 0031975341 scopus 로고    scopus 로고
    • A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome
    • M.E. Martin S. Fargion P. Brissot et al. A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome Blood 91 1998 319-323
    • (1998) Blood , vol.91 , pp. 319-323
    • Martin, M.E.1    Fargion, S.2    Brissot, P.3
  • 19
    • 0031965464 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element
    • A.D. Mumford T. Vulliamy J. Lindsay & A. Watson Hereditary hyperferritinemia-cataract syndrome: Two novel mutations in the L-ferritin iron-responsive element Blood 91 1998 367-368
    • (1998) Blood , vol.91 , pp. 367-368
    • Mumford, A.D.1    Vulliamy, T.2    Lindsay, J.3    Watson, A.4
  • 20
    • 0032403421 scopus 로고    scopus 로고
    • Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome
    • J.C. Barton E. Beutler & T. Gelbart Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome Blood 92 1998 4480
    • (1998) Blood , vol.92 , pp. 4480
    • Barton, J.C.1    Beutler, E.2    Gelbart, T.3
  • 21
    • 0032995924 scopus 로고    scopus 로고
    • Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome
    • M. Cicilano G. Zecchina A. Roetto et al. Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome Haematologica 84 1999 489-492
    • (1999) Haematologica , vol.84 , pp. 489-492
    • Cicilano, M.1    Zecchina, G.2    Roetto, A.3
  • 22
    • 0033055320 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia cataract syndrome: A de novo mutation in the iron responsive element of the L-ferritin gene
    • C. Arosio L. Fossati M. Viganò et al. Hereditary hyperferritinemia cataract syndrome: A de novo mutation in the iron responsive element of the L-ferritin gene Haematologica 84 1999 560-561
    • (1999) Haematologica , vol.84 , pp. 560-561
    • Arosio, C.1    Fossati, L.2    Viganò, M.3
  • 23
    • 0033151541 scopus 로고    scopus 로고
    • Description of a new mutation in the L-ferritin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family
    • A. Balas M.J. Avile F. Garcia-Sanchez et al. Description of a new mutation in the L-ferritin iron-responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family Blood 93 1999 4020-4021
    • (1999) Blood , vol.93 , pp. 4020-4021
    • Balas, A.1    Avile, M.J.2    Garcia-Sanchez, F.3
  • 24
    • 0003217939 scopus 로고    scopus 로고
    • L-ferritin-Baltimore-1: A novel mutation in the iron responsive element (C32G) as a cause of the hyperferritinemia-cataract syndrome
    • [abstract]
    • G.J. Kato & F. Casella L-ferritin-Baltimore-1: A novel mutation in the iron responsive element (C32G) as a cause of the hyperferritinemia-cataract syndrome [abstract] Blood 94 1999 407a
    • (1999) Blood , vol.94
    • Kato, G.J.1    Casella, F.2
  • 25
    • 0034117221 scopus 로고    scopus 로고
    • A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins
    • C. Camaschella G. Zecchina G. Lockitch et al. A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins British Journal of Haematolology 108 2000 480-482
    • (2000) British Journal of Haematolology , vol.108 , pp. 480-482
    • Camaschella, C.1    Zecchina, G.2    Lockitch, G.3
  • 28
    • 0035725363 scopus 로고    scopus 로고
    • Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome
    • D. Girelli C. Bozzini G. Zecchina et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome British Journal of Haematolology 115 2001 334-340
    • (2001) British Journal of Haematolology , vol.115 , pp. 334-340
    • Girelli, D.1    Bozzini, C.2    Zecchina, G.3
  • 29
    • 0036183225 scopus 로고    scopus 로고
    • A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome
    • M. Cazzola B. Foglieni G. Bergamaschi et al. A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome British Journal of Haematology 116 2002 667-670
    • (2002) British Journal of Haematology , vol.116 , pp. 667-670
    • Cazzola, M.1    Foglieni, B.2    Bergamaschi, G.3
  • 30
    • 0036049805 scopus 로고    scopus 로고
    • Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations
    • J.L. McLeod J. Craig S. Gumley et al. Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations British Journal of Haematology 118 2002 1179-1182
    • (2002) British Journal of Haematology , vol.118 , pp. 1179-1182
    • McLeod, J.L.1    Craig, J.2    Gumley, S.3
  • 31
    • 0037860450 scopus 로고    scopus 로고
    • Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (SLC11A3) mutations
    • G. Hetet I. Devaux N. Soufir et al. Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (SLC11A3) mutations Blood 102 2003 1904-1910
    • (2003) Blood , vol.102 , pp. 1904-1910
    • Hetet, G.1    Devaux, I.2    Soufir, N.3
  • 32
    • 0344305685 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome: Prevalence, lens morphology, spectrum of mutations, and clinical presentations
    • J.E. Craig J.B. Clark J.L. McLeod et al. Hereditary hyperferritinemia-cataract syndrome: Prevalence, lens morphology, spectrum of mutations, and clinical presentations Archives of Ophthalmology 121 2003 1753-1761
    • (2003) Archives of Ophthalmology , vol.121 , pp. 1753-1761
    • Craig, J.E.1    Clark, J.B.2    McLeod, J.L.3
  • 33
    • 3042517590 scopus 로고    scopus 로고
    • In the iron-responsive element of l-ferritin: A new mutation associated with hyperferritinemia-cataract
    • S. Bosio A. Campanella E. Gramaglia et al. in the iron-responsive element of l-ferritin: A new mutation associated with hyperferritinemia-cataract Blood Cells, Molecules and Diseases 33 2004 31-34
    • (2004) Blood Cells, Molecules and Diseases , vol.33 , pp. 31-34
    • Bosio, S.1    Campanella, A.2    Gramaglia, E.3
  • 34
    • 3242713925 scopus 로고    scopus 로고
    • Hereditary hyperferritinemia-cataract syndrome: A novel mutation in the iron-responsive element of the L-ferritin gene in a French family
    • L. Garderet B. Hermelin N.C. Gorin & O. Rosmorduc Hereditary hyperferritinemia-cataract syndrome: A novel mutation in the iron-responsive element of the L-ferritin gene in a French family American Journal of Medicine 117 2004 138-139
    • (2004) American Journal of Medicine , vol.117 , pp. 138-139
    • Garderet, L.1    Hermelin, B.2    Gorin, N.C.3    Rosmorduc, O.4
  • 35
    • 0033543569 scopus 로고    scopus 로고
    • Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome
    • C.R. Allerson M. Cazzola & T.A. Rouault Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome Journal of Biological Chemistry 274 1999 26439-26447
    • (1999) Journal of Biological Chemistry , vol.274 , pp. 26439-26447
    • Allerson, C.R.1    Cazzola, M.2    Rouault, T.A.3
  • 36
    • 0033932963 scopus 로고    scopus 로고
    • The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin
    • A.D. Mumford I.A. Cree J.D. Arnold et al. The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin British Journal of Ophthalmology 84 2000 697-700
    • (2000) British Journal of Ophthalmology , vol.84 , pp. 697-700
    • Mumford, A.D.1    Cree, I.A.2    Arnold, J.D.3
  • 37
    • 0036050644 scopus 로고    scopus 로고
    • Onset of cataract in early infancy associated with a 32G->C transition in the iron responsive element of L-ferritin
    • M.F. Campagnoli R. Pimazzoni S. Bosio et al. Onset of cataract in early infancy associated with a 32G->C transition in the iron responsive element of L-ferritin European Journal of Pediatrics 161 2002 499-502
    • (2002) European Journal of Pediatrics , vol.161 , pp. 499-502
    • Campagnoli, M.F.1    Pimazzoni, R.2    Bosio, S.3
  • 40
    • 0031028026 scopus 로고    scopus 로고
    • A new syndrome of liver iron overload with normal transferrin saturation
    • R. Moirand A.M. Mortaji O. Loreal et al. A new syndrome of liver iron overload with normal transferrin saturation Lancet 349 1997 95-97
    • (1997) Lancet , vol.349 , pp. 95-97
    • Moirand, R.1    Mortaji, A.M.2    Loreal, O.3
  • 41
    • 0026475825 scopus 로고
    • Evidence of H- and L-chains have co-operative roles in the iron-uptake mechanism of human ferritin
    • S. Levi S.J. Yewdall P.M. Harrison et al. Evidence of H- and L-chains have co-operative roles in the iron-uptake mechanism of human ferritin Biochemical Journal 288 1992 591-596
    • (1992) Biochemical Journal , vol.288 , pp. 591-596
    • Levi, S.1    Yewdall, S.J.2    Harrison, P.M.3
  • 43
    • 0033571363 scopus 로고    scopus 로고
    • H-ferritin subunit overexpression in erythroid cells reduces the oxidative stress response and induces multidrug resistance properties
    • S. Epsztejn H. Glickstein V. Picard et al. H-ferritin subunit overexpression in erythroid cells reduces the oxidative stress response and induces multidrug resistance properties Blood 94 1999 3593-3603
    • (1999) Blood , vol.94 , pp. 3593-3603
    • Epsztejn, S.1    Glickstein, H.2    Picard, V.3
  • 44
    • 0035437188 scopus 로고    scopus 로고
    • H-ferritin knockout mice: A model of hyperferritinemia in the absence of iron overload
    • C. Ferreira P. Santambrogio M.E. Martin et al. H-ferritin knockout mice: a model of hyperferritinemia in the absence of iron overload Blood 98 2001 525-532
    • (2001) Blood , vol.98 , pp. 525-532
    • Ferreira, C.1    Santambrogio, P.2    Martin, M.E.3
  • 45
    • 0034964604 scopus 로고    scopus 로고
    • A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload
    • J. Kato K. Fujikawa M. Kanda et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload American Journal of Human Genetics 69 2001 191-197
    • (2001) American Journal of Human Genetics , vol.69 , pp. 191-197
    • Kato, J.1    Fujikawa, K.2    Kanda, M.3
  • 46
    • 0242267566 scopus 로고    scopus 로고
    • Identification of two novel mutations in the 5′-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning
    • L. Cremonesi B. Foglieni I. Fermo et al. Identification of two novel mutations in the 5′-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning Haematologica 88 2003 1110-1116
    • (2003) Haematologica , vol.88 , pp. 1110-1116
    • Cremonesi, L.1    Foglieni, B.2    Fermo, I.3
  • 47
    • 0034677467 scopus 로고    scopus 로고
    • Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
    • A. Donovan A. Brownlie Y. Zhou et al. Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter Nature 403 2000 776-781
    • (2000) Nature , vol.403 , pp. 776-781
    • Donovan, A.1    Brownlie, A.2    Zhou, Y.3
  • 48
    • 0033861745 scopus 로고    scopus 로고
    • A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation
    • A.T. McKie P. Marciani A. Rolfs et al. A novel duodenal iron-regulated transporter, IREG1, implicated in the basolateral transfer of iron to the circulation Molecular Cell 5 2000 299-309
    • (2000) Molecular Cell , vol.5 , pp. 299-309
    • McKie, A.T.1    Marciani, P.2    Rolfs, A.3
  • 49
    • 0034733635 scopus 로고    scopus 로고
    • A novel mammalian iron-regulated protein involved in intracellular iron metabolism
    • Abboud & D.J. Haile A novel mammalian iron-regulated protein involved in intracellular iron metabolism Journal of Biological Chemistry 275 2000 19906-19912
    • (2000) Journal of Biological Chemistry , vol.275 , pp. 19906-19912
    • Abboud, A.1    Haile, D.J.2
  • 50
    • 0034930197 scopus 로고    scopus 로고
    • A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
    • O.T. Njajou N. Vaessen M. Joosse et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis Nature Genetics 28 2001 213-214
    • (2001) Nature Genetics , vol.28 , pp. 213-214
    • Njajou, O.T.1    Vaessen, N.2    Joosse, M.3
  • 51
    • 17944380796 scopus 로고    scopus 로고
    • Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene
    • G. Montosi A. Donovan A. Totaro et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene Journal of Clinical Investigation 108 2001 619-623
    • (2001) Journal of Clinical Investigation , vol.108 , pp. 619-623
    • Montosi, G.1    Donovan, A.2    Totaro, A.3
  • 52
    • 0033517341 scopus 로고    scopus 로고
    • Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene
    • A. Pietrangelo G. Montosi A. Totaro et al. Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene New England Journal of Medicine 341 1999 725-732
    • (1999) New England Journal of Medicine , vol.341 , pp. 725-732
    • Pietrangelo, A.1    Montosi, G.2    Totaro, A.3
  • 53
    • 0037100517 scopus 로고    scopus 로고
    • Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis
    • D.F. Wallace P. Pedersen J.L. Dixon et al. Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis Blood 100 2002 692-694
    • (2002) Blood , vol.100 , pp. 692-694
    • Wallace, D.F.1    Pedersen, P.2    Dixon, J.L.3
  • 54
    • 0037100383 scopus 로고    scopus 로고
    • A valine deletion of ferroportin 1: A common mutation in hemochromastosis type 4
    • A. Roetto A.T. Merryweather-Clarke F. Daraio et al. A valine deletion of ferroportin 1: A common mutation in hemochromastosis type 4 Blood 100 2002 733-734
    • (2002) Blood , vol.100 , pp. 733-734
    • Roetto, A.1    Merryweather-Clarke, A.T.2    Daraio, F.3
  • 55
    • 0037100382 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)
    • V. Devalia K. Carter A.P. Walker et al. Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3) Blood 100 2002 695-697
    • (2002) Blood , vol.100 , pp. 695-697
    • Devalia, V.1    Carter, K.2    Walker, A.P.3
  • 56
    • 18744400781 scopus 로고    scopus 로고
    • Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)
    • M. Cazzola L. Cremonesi M. Papaioannou et al. Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3) British Journal of Haematology 119 2002 539-546
    • (2002) British Journal of Haematology , vol.119 , pp. 539-546
    • Cazzola, M.1    Cremonesi, L.2    Papaioannou, M.3
  • 57
    • 0037622887 scopus 로고    scopus 로고
    • A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient
    • K.E. Arden D.F. Wallace J.L. Dixon et al. A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient Gut 52 2003 1215-1217
    • (2003) Gut , vol.52 , pp. 1215-1217
    • Arden, K.E.1    Wallace, D.F.2    Dixon, J.L.3
  • 58
    • 10744219904 scopus 로고    scopus 로고
    • Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
    • A.M. Jouanolle V. Douabin-Gicquel C. Halimi et al. Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload Journal of Hepatology 39 2003 286-289
    • (2003) Journal of Hepatology , vol.39 , pp. 286-289
    • Jouanolle, A.M.1    Douabin-Gicquel, V.2    Halimi, C.3
  • 59
    • 0038536855 scopus 로고    scopus 로고
    • Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the ferroportin1 gene (SLC11A3) in a large French-Canadian family
    • S.R. Rivard C. Lanzara D. Grimard et al. Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the ferroportin1 gene (SLC11A3) in a large French-Canadian family Haematologica 88 2003 824-826
    • (2003) Haematologica , vol.88 , pp. 824-826
    • Rivard, S.R.1    Lanzara, C.2    Grimard, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.