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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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Principais autores: Luscieti Sara, Tolle Gabriele, Aranda Jessica, Campos Carmen Benet, Risse Frank, Morán Érica, Muckenthaler Martina U, Sánchez Mayka
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2013-02-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Serum ferritin
Iron metabolism
IRP/IRE regulatory system
Bilateral cataracts
Acesso em linha:http://www.ojrd.com/content/8/1/30
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