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
Association of caspase9 promoter polymorphisms with the susceptibility of AML in south Indian subjects.
Cingeetham A et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014
Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.
Shekunov J et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2011
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
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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