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
A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.
Mattila RM et al.
Acta Ophthalmologica, 2018
Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay.
Thurlow V et al.
Annals of Clinical Biochemistry, 2012
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
Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.
Ferrante M et al.
European Journal of Gastroenterology & Hepatology, 2005
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
Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.
Hetet G et al.
Blood, 2003
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
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
Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G.
Cremonesi L et al.
Clinical Chemistry, 2001
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