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

Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Mor?degn E, Muckenthaler MU, S?degnchez M. Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome. Orphanet J Rare Dis. 2013 Feb 19;8(1):30. [Epub ahead of print]