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Article

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.

European journal of human genetics : EJHG - 1 Oct 2004

Lachlan Katherine L, Temple I Karen, Mumford Andrew D

Abstract excerpt

Hereditary hyperferritinaemia cataract syndrome (HHCS) is an autosomal dominant disorder characterised by early onset cataracts and increased serum L-ferritin concentration. Affected individuals show nucleotide substitutions in the region of the L-ferritin gene (FTL) that encodes a regulatory seq...

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Source

Identifiers

PMID: 15280904
DOI: 10.1038/sj.ejhg.5201252

Genes

FTL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15280904-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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