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
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Celma Nos F et al.
International Journal of Molecular Sciences, 2021
Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.
Muñoz-Muñoz J et al.
Clinical Genetics, 2013
The hereditary hyperferritinemia-cataract syndrome in 2 italian families.
Perruccio K et al.
Case Reports in Pediatrics, 2013
The hereditary hyperferritinemia-cataract syndrome: a family study.
Álvarez-Coca-González J et al.
European Journal of Pediatrics, 2010
Mutation analysis of the ferritin L-chain gene in age-related cataract.
Assia N et al.
Molecular Vision, 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
Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.
Lachlan KL et al.
European Journal of Human Genetics : Ejhg, 2004
Scanning mutations of the 5'UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations.
Cremonesi L et al.
British Journal of Haematology, 2003
Ferritin crystal cataracts in hereditary hyperferritinemia cataract syndrome.
Brooks DG et al.
Investigative Ophthalmology & Visual Science, 2002
A novel deletion of the L-ferritin iron-responsive element responsible for severe hereditary hyperferritinaemia-cataract syndrome.
Cazzola M et al.
British Journal of Haematology, 2002
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.
Girelli D et al.
British Journal of Haematology, 2001
Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome.
Giansily M et al.
British Journal of Haematology, 2001
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.
Yazar S et al.
Ophthalmic Genetics, 0
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