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
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
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
Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of the anti-4.2 type.
Beris P et al.
British Journal of Haematology, 1999
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