| 1 | CAHF, FTL
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| FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.
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| Ferro E, Capra AP, Zirilli G, Meduri A, Urso M, Briuglia S, La Rosa MA.
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| Pediatr Dev Pathol ediatr Dev Pathol. 2018 Jan 1:1093526618755200. doi: 10.1177/1093526618755200. [Epub ahead of print]
2018
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| 2 | CAHF, FTL
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| Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
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| Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Morán É, Muckenthaler MU, Sánchez M.
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| Orphanet J Rare Dis 8:30. doi: 10.1186/1750-1172-8-30.
2013
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| 3 | CAHF, FTL
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| Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region.
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| Faniello MC, Di Sanzo M, Quaresima B, Nisticò A, Fregola A, Grosso M, Cuda G, Costanzo F.
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| Clin Biochem 42(9):911-4. Epub 2009 Feb 27.PMID: 19254706 2009
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| 4 | FTH1, CAHF
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| Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome.
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| Phillips JD, Warby CA, Kushner JP.
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| Am J Med Genet A 134(1):77-9. 2005
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| 5 | CAHF
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| Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.
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| Lachlan KL, Temple IK, Mumford AD.
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| Eur J Hum Genet 12(10):790-6. 2004
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| 6 | CAHF, FTL
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| 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.
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| Camaschella C, Zecchina G, Lockitch G, Roetto A, Campanella A, Arosio P, Levi S.
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| Br J Haematol 108(3):480-2. 2000
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| 7 | CAHF, FTL
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| Recurrent mutations in the iron regulatory element of L-ferritin in hereditary hyperferritinemia-cataract syndrome.
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| Cicilano M, et al.
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| Haematologica 84(6):489-92. 1999
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| 8 | CAHF, FTL
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| 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.
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| Martin ME, Fargion S, Brissot P, Pellat B, Beaumont C.
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| Blood 91(1):319-23. 1998
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| 9 | CAHF, FTL
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| Hereditary hyperferritinemia-cataract syndrome: relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.
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| Cazzola M, Bergamaschi G, Tonon L, Arbustini E, Grasso M, Vercesi E, Barosi G, Bianchi PE, Cairo G, Arosio P.
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| Blood 90(2):814-21. 1997
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| 10 | CAHF, FTL
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| Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.
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| Girelli D, Corrocher R, Bisceglia L, Olivieri O, Zelante L, Panozzo G, Gasparini P.
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| Blood 90(5):2084-8. 1997
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| 11 | CAHF, FTL
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| Molecular basis for the hereditary hyperferritinemia-cataract syndrome.
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| Girelli D, et al.
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| Blood 87 : 4912-4913. 1996
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| 12 | CAHF, FTL
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| A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome.
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| Aguilar-Martinez P, et al.
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| Blood 88 : 1895-1903. 1996
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| 13 | CAHF, FTL
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| Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract.
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| Beaumont C, et al.
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| Nat Genet 11 : 444-446. 1995
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| 14 | CAHF, FTL
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| Molecular basis for the recently described hereditary hyper ferritinemia-cataract syndrome : a mutation in the iron-responsive element of ferritin L-subunit gene (the Verona Mutation).
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| Girelli D, et al.
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| Blood 86 : 4050-4053. 1995
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