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Article

Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations.

British journal of haematology - 1 Apr 2003

Cremonesi Laura, Paroni Rita, Foglieni Barbara, Galbiati Silvia, Fermo Isabella, Soriani Nadia, Belloli Silvana, Ruggeri Giuseppina, Biasiotto Giorgio, Cazzola Mario, Ferrari Francesca, Ferrari Maurizio, Arosio Paolo

Abstract excerpt

Hereditary hyperferritinaemia cataract syndrome is an autosomal dominant disorder caused by heterogeneous mutations of the iron regulatory element (IRE) in the ferritin l-chain mRNA. The mutations are rare and fast DNA scanning would facilitate diagnosis. The aim of the study was to compare the analytical performances of two fast DNA scanning techniques: denaturing high-performance liquid chromatography (DHPLC)...

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Share to 5' Untranslated Regions
Share to Chromatography, High Pressure Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoresis, Agar Gel

Share to Ferritins

Share to HFE gene

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Share to Regulatory Sequences, Nucleic Acid

Source

Identifiers

PMID: 12670350
DOI: 10.1046/j.1365-2141.2003.04253.x

Genes

HFE

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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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