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Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
BACKGROUND: Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease is caused by mutations in the Iron-Responsive Element (IRE) located in the 5(′) untranslated reg...
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Asıl Yazarlar: | , , , , , , , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
BioMed Central
2013
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3585816/ https://ncbi.nlm.nih.gov/pubmed/23421845 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-30 |
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