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Volumn 16, Issue 1, 2006, Pages 153-160

Hereditary hyperferritinemia cataract syndrome: Ocular, genetic, and biochemical findings

Author keywords

Cataract; Ferritin; Hyperferritinemia

Indexed keywords

FERRITIN; MESSENGER RNA;

EID: 33645553357     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210601600125     Document Type: Article
Times cited : (19)

References (8)
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    • Girelli D, Bozzini C, Zecchina G, et al. Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia- cataract syndrome. Br J Haematol 2001; 115:334-40.
    • (2001) Br J Haematol , vol.115 , pp. 334-340
    • Girelli, D.1    Bozzini, C.2    Zecchina, G.3
  • 2
    • 0034755009 scopus 로고    scopus 로고
    • Lens changes in hereditary hyperferritinaemia-cataract syndrome
    • Chang-Godinich A, Ades S, Schenkein D, et al. Lens changes in hereditary hyperferritinaemia-cataract syndrome Am J Ophthalmol 2001; 132: 786-8.
    • (2001) Am J Ophthalmol , vol.132 , pp. 786-788
    • Chang-Godinich, A.1    Ades, S.2    Schenkein, D.3
  • 3
    • 0033932963 scopus 로고    scopus 로고
    • The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin
    • Mumford AD, Cree IA, Arnold JD, et al. The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin. Br J Ophthalmol 2000; 84: 697-700.
    • (2000) Br J Ophthalmol , vol.84 , pp. 697-700
    • Mumford, A.D.1    Cree, I.A.2    Arnold, J.D.3
  • 4
    • 0028788201 scopus 로고
    • Molecular basis for the recently described hereditary hyperferritinaemia cataract syndrome: A mutation in the iron-responsive element of ferritin L-subunit gene ("the Verona mutation")
    • Girelli D, Corrocher R, Bisceglia L, et al. Molecular basis for the recently described hereditary hyperferritinaemia cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene ("the Verona mutation"). Blood 1995; 86: 4050-3.
    • (1995) Blood , vol.86 , pp. 4050-4053
    • Girelli, D.1    Corrocher, R.2    Bisceglia, L.3
  • 5
    • 0030767125 scopus 로고    scopus 로고
    • Hyperferritinaemia in the absence of iron overload
    • Arnold JD, Mumford AD, Lindsay JO, et al. Hyperferritinaemia in the absence of iron overload. Gut 1997; 41: 408-10.
    • (1997) Gut , vol.41 , pp. 408-410
    • Arnold, J.D.1    Mumford, A.D.2    Lindsay, J.O.3
  • 6
    • 0029148586 scopus 로고
    • A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant cataract
    • Girelli D, Olivieri O, De Franceschi L, et al. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant cataract. Br J Haematol 1995; 90: 931-4.
    • (1995) Br J Haematol , vol.90 , pp. 931-934
    • Girelli, D.1    Olivieri, O.2    De Franceschi, L.3
  • 7
    • 0028881134 scopus 로고
    • Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
    • Beaumont C, Leneuve P, Devaux I, et al. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract. Nat Genet 1995; 11: 444-6.
    • (1995) Nat Genet , vol.11 , pp. 444-446
    • Beaumont, C.1    Leneuve, P.2    Devaux, I.3
  • 8
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    • Onset of cataract in early infancy associated with a 32G à C transition in responsive element of L-ferritin
    • Campagnoli MF, Pimazzoni R, Bosio S, et al. Onset of cataract in early infancy associated with a 32G à C transition in responsive element of L-ferritin. Eur J Pediatr 2002; 161: 499-502.
    • (2002) Eur J Pediatr , vol.161 , pp. 499-502
    • Campagnoli, M.F.1    Pimazzoni, R.2    Bosio, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.