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Article

High resolution melting for the identification of mutations in the iron responsive element of the ferritin light chain gene.

Clinical chemistry and laboratory medicine - 1 Oct 2010

Castiglioni Emanuela, Soriani Nadia, Girelli Domenico, Camaschella Clara, Spiga Ivana, Della Porta Matteo G, Ferrari Maurizio, Cremonesi Laura

Abstract excerpt

BACKGROUND: Among the causes of hyperferritinemia, hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disease characterized by distinctive cataracts and high serum ferritin. It is caused by mutations in the iron responsive element (IRE) of the ferritin light chain gene (FTL). METHODS: To speed up and simplify mutational scanning in this genomic region, we developed a protocol based on...

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Identifiers

PMID: 20578964
DOI: 10.1515/CCLM.2010.281

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.

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