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Article

Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.

Haematologica - 1 Oct 2003

Cremonesi Laura, Foglieni Barbara, Fermo Isabella, Cozzi Anna, Paroni Rita, Ruggeri Giuseppina, Belloli Silvana, Levi Sonia, Fargion Silvia, Ferrari Maurizio, Arosio Paolo

Abstract excerpt

BACKGROUND AND OBJECTIVES: Hereditary hyperferritinemia cataract syndrome is caused by mutations of the iron responsive elements (IREs) of L-ferritin mRNA. These alter the IRE structure and determine L-ferritin upregulation. IREs are located in 5'untranslated regions (5'UTR) of ferritin mRNAs. L-ferritin 5'UTR has been extensively studied and up to 21 different mutations have been identified. Only one mutation...

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PMID: 14555306

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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