Hereditary Hyperferritinemia-Cataract Syndrome: Two Novel Mutations in the L-Ferritin Iron-Responsive Element
Author:
Affiliation:
1. Imperial College School of Medicine Hammersmith Hospital London, UK
2. Stoke Mandeville Hospital NHS trust Aylesbury, Bucks, UK
Publisher
American Society of Hematology
Subject
Cell Biology,Hematology,Immunology,Biochemistry
Link
http://ashpublications.org/blood/article-pdf/91/1/367/1414979/367.pdf
Reference4 articles.
1. Hereditary hyperferritinaemia-cataract syndrome: Relationship between phenotypes and specific mutations in the iron-responsive element of ferritin light-chain mRNA.;Cazzola;Blood,1997
2. Mutagenesis of the iron-regulatory element further defines a role for RNA secondary structure in the regulation of ferritin and transferrin receptor expression.;Bettany;J Biol Chem,1992
3. The interaction between the iron-responsive element and its cognate RNA is highly dependent upon both RNA sequence and structure.;Jaffrey;Nucleic Acids Res,1993
4. Structural requirements of iron-responsive element for binding of the protein involved in both transferrin receptor and ferritin mRNA post-transcriptional regulation.;Leibold;Nucleic Acids Res,1990
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3. Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications;Journal of American Association for Pediatric Ophthalmology and Strabismus;2020-12
4. 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
5. A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome;Acta Ophthalmologica;2017-06-21
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