Literature DB >> 22881709

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.

J Muñoz-Muñoz, N Cuadrado-Grande, M-I Moreno-Carralero, B Hoyos-Sanabria, A Manubes-Guarch, A-F González, P Tejada-Palacios, A Del-Castillo-Rueda, M-J Morán-Jiménez.   

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Year:  2012        PMID： 22881709     DOI： 10.1111/j.1399-0004.2012.01934.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Authors:  Sara Luscieti; Gabriele Tolle; Jessica Aranda; Carmen Benet Campos; Frank Risse; Érica Morán; Martina U Muckenthaler; Mayka Sánchez
Journal:  Orphanet J Rare Dis       Date:  2013-02-19       Impact factor: 4.123

2.  Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee.

Authors:  Heidi A Worth; Zachary Marlette; David Aljadir; Ronald Lands
Journal:  Case Rep Hematol       Date:  2020-05-26
  2 in total

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