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