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Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family

✍ Scribed by FGA Meneses; B Schnabel; IDCG Silva; FL Alberto; L Toma; HB Nader; CC Lopes


Book ID
110889119
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
592 KB
Volume
79
Category
Article
ISSN
0009-9163

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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