Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of medical genetics. Part A - 1 Apr 2005

Phillips John D, Warby Christy A, Kushner James P

Abstract excerpt

The hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare autosomal dominant disorder due to mutations affecting the iron responsive element (IRE) of the L-ferritin mRNA. We report on a new mutation, 43G > A, in the loop of the stem-loop structure of the L-ferritin IRE in the proband of a pedigree with early-onset bilateral cataracts.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to DNA Mutational Analysis
Share to Ferritins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iron Metabolism Disorders

Share to Pedigree

Share to Response Elements

Share to Syndrome

Source

Identifiers

PMID: 15690351
DOI: 10.1002/ajmg.a.30425

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel mutation in the L-ferritin IRE leading to hereditary hyperferritinemia-cataract syndrome.PMID 15690351Read ↗

Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.Semantic proximity Read ↗

Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.Semantic proximity Read ↗

A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.Semantic proximity Read ↗

Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.Semantic proximity Read ↗

Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.Semantic proximity Read ↗

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.Semantic proximity Read ↗

Hereditary hyperferritinemia-cataract syndrome (HHCS) presenting with iron deficiency anemia associated with a new mutation in the iron responsive element of the L ferritin gene in a Swiss family.Semantic proximity Read ↗

Hereditary hyperferritinemia-cataract syndrome: a novel mutation in the iron-responsive element of the L-ferritin gene in a French family.Semantic proximity Read ↗

Hereditary hyperferritinemia cataract syndrome: clinical, genetic, and laboratory findings in 5 families.Semantic proximity Read ↗

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.Semantic proximity Read ↗

Ferritin L-subunit Gene Mutation and Hereditary Hyperferritinaemia Cataract Syndrome: A Case Report and Literature Review Semantic proximity Read ↗

FTL c.-168G>C Mutation in Hereditary Hyperferritinemia Cataract Syndrome: A New Italian Family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.