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IRP/IRE regulatory system
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Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
by Luscieti, Sara (Author)
, Tolle, Gabriele (Author)
, Aranda, Jessica (Author)
, Campos, Carmen Benet (Author)
, Risse, Frank (Author)
, Morán, Érica (Author)
, Muckenthaler, Martina (Author)
, Sánchez, Mayka (Author)
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Orphanet journal of rare diseases, 8 (2013), Artikel-ID 30, Seite 1-10
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Klinikum der Universität Heidelberg
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Zentrum für Kinder- und Jugendmedizin
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Aranda, Jessica
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Campos, Carmen Benet
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Luscieti, Sara
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Morán, Érica
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Muckenthaler, Martina
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Risse, Frank
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Sánchez, Mayka
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Tolle, Gabriele
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Bilateral cataracts
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IRP/IRE regulatory system
Iron metabolism
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Serum ferritin
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