Associated Papers
Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.
Yang Y et al.
Hematology (amsterdam, Netherlands), 2021
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Cadenas B et al.
Pharmaceuticals (basel, Switzerland), 2019
30678075 (PubMed )
Supplement: pharmaceuticals-12-00017-s001.pdf
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.
Luscieti S et al.
Orphanet Journal of Rare Diseases, 2013
Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.
Millonig G et al.
Human Genomics, 2010
Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.
Ferrari F et al.
Human Mutation, 2006
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