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

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 is caused by mutations in the Iron-Responsive Element (IRE) located in the 5(′) untranslated reg...

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Autores principales: Luscieti, Sara, Tolle, Gabriele, Aranda, Jessica, Campos, Carmen Benet, Risse, Frank, Morán, Érica, Muckenthaler, Martina U, Sánchez, Mayka
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3585816/
https://ncbi.nlm.nih.gov/pubmed/23421845
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-30
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