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

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

Acta ophthalmologica - 1 Feb 2018

Mattila Roosa-Maria, Sainio Annele, Järveläinen Marketta, Pursiheimo Juha, Järveläinen Hannu

Abstract excerpt

PURPOSE: To present a novel Finnish double nucleotide variant in the iron-responsive element (IRE) of the ferritin L-chain gene (FTL) leading to hyperferritinaemia-cataract syndrome (HHCS). METHODS: Genomic DNA extracted from peripheral blood leucocytes and synthetized with three different primers flanking the IRE in the FTL 5'-untranslated region of the FTL was used in polymerase chain reaction (PCR)....

Read the complete abstract on PubMed

Topics

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

Share to Apoferritins
Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Finland

Share to Genetic Testing

Share to Iron Metabolism Disorders

Share to Point Mutation

Source

Identifiers

PMID: 28636169
DOI: 10.1111/aos.13492

Genes

FTL

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.PMID 28636169Read ↗

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 ↗

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

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

Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.Semantic proximity Read ↗

Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.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: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.Semantic proximity Read ↗

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

Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.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.