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Article

Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2001

Pérez de Nanclares G, Castaño L, Martul P, Rica I, Vela A, Sanjurjo P, Aldamiz-Echevarría K, Martínez R, Sarrionandia M J

Abstract excerpt

Hereditary hyperferritinemia-cataract syndrome is a genetic condition characterized by constitutively increased serum ferritin values in the absence of iron overload and by bilateral cataract. It has been demonstrated that mutations in the stem loop structure of the iron regulatory element (IRE) located in the 5'-untranslated region of the ferritin L-subunit gene (19q13.1) are responsible for the anomalous...

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Identifiers

PMID: 11308047
DOI: 10.1515/jpem.2001.14.3.295

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Molecular analysis of hereditary hyperferritinemia-cataract syndrome in a large Basque family.PMID 11308047Read ↗

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Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome.Semantic proximity Read ↗

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