Hereditary hyperferritinemia-cataract syndrome
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,Pediatrics, Perinatology and Child Health
Reference23 articles.
1. A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract;Girelli;Br J Haematol,1995
2. Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinemia and cataract;Beaumont;Nat Genet,1995
3. Assignment of human ferritin genes to chromosomes 11 and 19q13.3 → 19qter;Worwood;Hum Genet,1985
4. A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause of hereditary hyperferritinemia-cataract syndrome;Aguilar-Martinez;Blood,1996
5. A point mutation in the bulge of the iron-responsive element of the L ferritin gene in two families with the hereditary hyperferritinemia-cataract syndrome;Martin;Blood,1998
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1. Un'insolita associazione: iperferritinemia e cataratta;Medico e Bambino Pagine elettroniche;2023-12-22
2. Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families;International Journal of Molecular Sciences;2023-07-25
3. Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans;Human Molecular Genetics;2014-09-15
4. Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families;Journal of American Association for Pediatric Ophthalmology and Strabismus;2011-08
5. A child with hyperferritinemia: Case report;Italian Journal of Pediatrics;2011-05-12
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