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Hereditary hyperferritinemia-cataract syndrome

✍ Scribed by Gregory Christiansen; Brian G. Mohney


Book ID
119263464
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
356 KB
Volume
11
Category
Article
ISSN
1528-3933

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## Communicated by Paolo Fortina Hereditary hyperferritinemia cataract syndrome (HHCS) is caused by mutations in the regulatory iron responsive element (IRE) in the 5 0 UTR of the L-ferritin transcript that reduce binding affinity to the iron regulatory proteins (IRPs) and lead to a constitutive up