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. doi: 10.3324/haematol.2012.077198.
Muriel Giansily-Blaizot ,  Séverine Cunat ,  Grégory Moulis ,  Jean-François Schved ,  Patricia Aguilar-Martinez