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

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
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