Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia-cataract syndrome and its impact on the phenotype

Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, Aguilar-Martinez P. Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia-cataract syndrome and its impact on the phenotype. Haematologica. 2013 Apr;98(4):e42-3