A novel deletion of the l -ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome

Author:

Cazzola Mario,Foglieni Barbara,Bergamaschi Gaetano,Levi Sonia,Lazzarino Mario,Arosio Paolo

Publisher

Wiley

Subject

Hematology

Reference26 articles.

1. A novel mutation in the iron responsive element of ferritin 1-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome;Aguilar-Martinez;Blood,1996

2. Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia ± cataract syndrome;Allerson;Journal of Biological Chemistry,1999

3. Hyperferritinemia in the absence of iron overload.;Arnold, J.D., Mumford, A.D., Lindsay, J.O., Hedge, U., Hagan, M. & Hawkins, J.R.;Gut,1997

4. Hereditary hyperferritinemia cataract syndrome: a de novo mutation in the iron responsive element of the l-ferritin gene;Arosio;Haematologica,1999

5. Description of a new mutation in the l-ferritin iron- responsive element associated with hereditary hyperferritinemia-cataract syndrome in a Spanish family;Balas;Blood,1999

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1. Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review;Hematology;2021-01-01

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3. Mammalian iron metabolism and its control by iron regulatory proteins;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2012-09

4. Genetic Testing for Disorders of Iron Homeostasis;Iron Physiology and Pathophysiology in Humans;2011-11-24

5. Miscellaneous Iron-Related Disorders;Iron Physiology and Pathophysiology in Humans;2011-11-24

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