Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01517.x/fullpdf
Reference15 articles.
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2. A linkage between hereditary hyperferritinemia not related to iron overload and autosomal dominant congenital cataract.;Girelli;Br J Haematol,1995
3. Mutation in the iron responsive element of the L-ferritin mRNA in a family with dominant hyperferritinemia and cataract.;Beaumont;Nat Genet,1995
4. Translational pathophysiology: a novel molecular mechanism of human disease.;Cazzola;Blood,2000
5. Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.;Ferrari;Hum Mutat,2006
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1. Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families;International Journal of Molecular Sciences;2023-07-25
2. Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review;Hematology;2021-01-01
3. Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome;Einstein (São Paulo);2017-07-24
4. Hyperferritinémie : quand la génétique s’emmêle;La Revue de Médecine Interne;2017-06
5. Hereditary Hyperferritinemia Cataract Syndrome: Clinical, Genetic, and Laboratory Findings in 5 Families;Klinische Pädiatrie;2011-10-21
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