Associated Papers
Pathogenic mechanism and modeling of neuroferritinopathy.
Cozzi A et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.
Cadenas B et al.
Pharmaceuticals (basel, Switzerland), 2019
30678075 (PubMed )
Supplement: pharmaceuticals-12-00017-s001.pdf
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
Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome.
Cozzi A et al.
The Journal of Experimental Medicine, 2013
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
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