Associated Papers
Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.
Millonig G et al.
Human Genomics, 2010
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
Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.
Girelli D et al.
British Journal of Haematology, 2001
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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