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Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

<p>Abstract</p> <p>Background</p> <p>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...

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Kaydedildi:
Asıl Yazarlar: Luscieti Sara, Tolle Gabriele, Aranda Jessica, Campos Carmen Benet, Risse Frank, Morán Érica, Muckenthaler Martina U, Sánchez Mayka
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMC 2013-02-01
Seri Bilgileri:Orphanet Journal of Rare Diseases
Konular:
Serum ferritin
Iron metabolism
IRP/IRE regulatory system
Bilateral cataracts
Online Erişim:http://www.ojrd.com/content/8/1/30
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