Visualitzant Ciències de la Salut per autor/a "Tolle, Gabriele"
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Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
Luscieti, Sara; Tolle, Gabriele; Aranda, Jessica; Benet Campos, Carmen; Risse, Frank; Morán, Érica; Muckenthaler, Martina U.; Sánchez, Mayka (Orphanet Journal of Rare Diseases, 2013)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 ...