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
A novel deletion in the iron-response element of the L-ferritin gene, causing hyperferritinaemia cataract syndrome.
Garber I et al.
Annals of Clinical Biochemistry, 2014
Molecular genetics of congenital nuclear cataract.
Deng H et al.
European Journal of Medical Genetics, 2014
Hyperferritinemia without iron overload in patients with bilateral cataracts: a case series.
Kröger A et al.
Journal of Medical Case Reports, 2011
Disease-associated mutations that alter the RNA structural ensemble.
Halvorsen M et al.
Plos Genetics, 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
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