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Article

Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.

Human mutation - 1 Feb 2006

Ferrari Francesca, Foglieni Barbara, Arosio Paolo, Camaschella Clara, Daraio Filomena, Levi Sonia, García Erce José Antonio, Beaumont Carole, Cazzola Mario, Ferrari Maurizio, Cremonesi Laura

Abstract excerpt

Hereditary hyperferritinemia cataract syndrome (HHCS) is caused by mutations in the regulatory iron responsive element (IRE) in the 5'UTR of the L-ferritin transcript that reduce binding affinity to the iron regulatory proteins (IRPs) and lead to a constitutive upregulation of the protein in tissue and serum. Twenty-nine mutations have been reported within the L-ferritin (FTL) IRE sequence, 21 of which were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16395671
DOI: 10.1002/humu.20294

Genes

FTL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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