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A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site

โœ Scribed by Burdon, Kathryn P. (author);Sharma, Shiwani (author);Chen, Celia S. (author);Dimasi, David P. (author);Mackey, David A. (author);Craig, Jamie E. (author)

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
469 KB
Volume
28
Category
Article
ISSN
1059-7794

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A novel deletion in the FTL gene causes
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site
โœ Burdon, Kathryn P. (author);Sharma, Shiwani (author);Chen, Celia S. (author);Dim ๐Ÿ“‚ Article ๐Ÿ“… 2007 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 469 KB ๐Ÿ‘ 1 views

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