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

✍ Scribed by 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

Book ID: 119839676
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 620 KB
Volume: 83
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2012.01934.x

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Hereditary hyperferritinemia cataract syndrome (HHCS) is characterized by distinctive cataracts and high serum ferritin in the absence of iron overload. It is caused by mutations in the iron response element (IRE) of the Ferritin Light Chain (FTL) gene. Here we investigate the genetics of HHCS in a

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