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American Journal of Ophthalmology
Volumn 132, Issue 5, 2001, Pages 786-788
Lens changes in hereditary hyperferritinemia-cataract syndrome
Author keywords

[No Author keywords available]
Indexed keywords

ADULT; ARTICLE; CASE REPORT; CATARACT; CHROMOSOME 19; EYE PHOTOGRAPHY; FERRITIN BLOOD LEVEL; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; HYPERFERRITINEMIA; LENS DISEASE; MALE; PRIORITY JOURNAL; VISUAL ACUITY;
EID: 0034755009     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(01)01106-0     Document Type: Article
Times cited : (25)
References (6)
  • 1
    • 0029156805 scopus 로고
    • Bilateral cataract and high serum ferritin: A new dominant genetic disorder?
    • Bonneau D, Winter-Fuseau I, Loiseau MN, et al. Bilateral cataract and high serum ferritin: a new dominant genetic disorder? J Med Genet 1995;32:778-779.
    • (1995) J Med Genet , vol.32 , pp. 778-779
    • Bonneau, D.1    Winter-Fuseau, I.2    Loiseau, M.N.3
  • 2
    • 0029148586 scopus 로고
    • A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract
    • Girelli D, Oliveri O, DeFranchesi L, et al. A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract. Br J Haematol 1995;90:931-934.
    • (1995) Br J Haematol , vol.90 , pp. 931-934
    • Girelli, D.1    Oliveri, O.2    Defranchesi, L.3
  • 3
    • 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
    • Cazzola M, Bergamaschi G, Tonon L, et al. Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA. Blood 1997;90:814-821.
    • (1997) Blood , vol.90 , pp. 814-821
    • Cazzola, M.1    Bergamaschi, G.2    Tonon, L.3
  • 4
    • 0028881134 scopus 로고
    • Mutation in the iron responsive element of L-ferritin mRNA in a family with dominant hyperferritinemia and cataract
    • Beaumont C, Leneuvue P, Devaux I, et al. Mutation in the iron responsive element of L-ferritin mRNA in a family with dominant hyperferritinemia and cataract. Nature Genet 1995;11:444-446.
    • (1995) Nature Genet , vol.11 , pp. 444-446
    • Beaumont, C.1    Leneuvue, P.2    Devaux, I.3
  • 5
    • 0033543569 scopus 로고    scopus 로고
    • Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hereditary hyperferritinemia-cataract syndrome
    • Allerson C, Cazzola M, Rouault TA. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hereditary hyperferritinemia-cataract syndrome. J Biol Chem 1999;274:26439-26447.
    • (1999) J Biol Chem , vol.274 , pp. 26439-26447
    • Allerson, C.1    Cazzola, M.2    Rouault, T.A.3
  • 6
    • 0034117221 scopus 로고    scopus 로고
    • A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinemia-cataract syndrome deceases the binding affinity of the mutated IRE for iron-regulatory proteins
    • Camaschella C, Zecchina G, Lockitch G, et al. A new mutation (G51C) in the iron-responsive element (IRE) of L-ferritin associated with hyperferritinemia-cataract syndrome deceases the binding affinity of the mutated IRE for iron-regulatory proteins. Br J Haematol 2000;108:480-482.
    • (2000) Br J Haematol , vol.108 , pp. 480-482
    • Camaschella, C.1    Zecchina, G.2    Lockitch, G.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.