A new mutation (G51C) in the iron-responsive element (IRE) of l -ferritin associated with hyperferritinaemia-cataract syndrome decreases the binding affinity of the mutated IRE for iron-regulatory proteins
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2141.2000.01920.x/fullpdf
Reference12 articles.
1. A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome [letter; comment]
2. Clinical Severity and Thermodynamic Effects of Iron-responsive Element Mutations in Hereditary Hyperferritinemia-Cataract Syndrome
3. Description of a New Mutation in the L-Ferritin Iron-Responsive Element Associated With Hereditary Hyperferritinemia-Cataract Syndrome in a Spanish Family
4. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract
5. Hereditary Hyperferritinemia-Cataract Syndrome: Relationship Between Phenotypes and Specific Mutations in the Iron-Responsive Element of Ferritin Light-Chain mRNA
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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
2. Repression of ferritin light chain translation by human eIF3;eLife;2019-08-15
3. Hereditary hyperferritinaemia-cataract syndrome (HHCS) – an underestimated condition: ferritin light chain variant spectrum in German families;Clinical Chemistry and Laboratory Medicine (CCLM);2019-06-18
4. Repression of ferritin light chain translation by human eIF3;2018-05-08
5. Hepcidin: SNP-Like Polymorphisms Present in Iron Metabolism and Clinical Complications of Iron Accumulation and Deficiency;Genetic Polymorphisms;2017-09-06
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