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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主要な著者:	Luscieti Sara, Tolle Gabriele, Aranda Jessica, Campos Carmen Benet, Risse Frank, Morán Érica, Muckenthaler Martina U, Sánchez Mayka
フォーマット:	Artigo
言語:	Inglês
出版事項:	BMC 2013-02-01
シリーズ:	Orphanet Journal of Rare Diseases
主題:	Serum ferritin Iron metabolism IRP/IRE regulatory system Bilateral cataracts
オンライン･アクセス:	http://www.ojrd.com/content/8/1/30
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