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Article

Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.

Clinical genetics - 1 Feb 2011

Meneses F G A, Schnabel B, Silva I D C G, Alberto F L, Toma L, Nader H B, Lopes C C

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Share to Apoferritins
Share to Cataract
Share to Ferritins
Share to Hemochromatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemochromatosis Protein

Share to Histocompatibility Antigens Class I

Share to Iron Metabolism Disorders

Share to Transferrin

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Identifiers

PMID: 21210779
DOI: 10.1111/j.1399-0004.2010.01517.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Identification of the mutations associated with hereditary hyperferritinemia cataract syndrome and hemochromatosis in a Brazilian family.PMID 21210779Read ↗

Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.Semantic proximity Read ↗

Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome.Semantic proximity Read ↗

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.Semantic proximity Read ↗

[Molecular genetics of hereditary cataract-hyperferritinemia syndrome].Semantic proximity Read ↗

Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.Semantic proximity Read ↗

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.Semantic proximity Read ↗

Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.Semantic proximity Read ↗

Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family.Semantic proximity Read ↗

Ferritin L-subunit Gene Mutation and Hereditary Hyperferritinaemia Cataract Syndrome: A Case Report and Literature Review Semantic proximity Read ↗

Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome.Semantic proximity Read ↗

Hereditary hyperferritinemia cataract syndrome as a cause of childhood hyperferritinemia.Semantic proximity Read ↗

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.Semantic proximity Read ↗

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