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

• Muriel Giansily-Blaizot,
• Séverine Cunat,
• Grégory Moulis,
• Jean-François Schved,
• Patricia Aguilar-Martinez

Affiliations

Muriel Giansily-Blaizot

Laboratory of Hematology, Hôpital Saint Eloi, CHU of Montpellier, France

Séverine Cunat

Laboratory of Hematology, Hôpital Saint Eloi, CHU of Montpellier, France

Grégory Moulis

Laboratory of Hematology, Hôpital Saint Eloi, CHU of Montpellier, France

Jean-François Schved

Laboratory of Hematology, Hôpital Saint Eloi, CHU of Montpellier, France

Patricia Aguilar-Martinez

Laboratory of Hematology, Hôpital Saint Eloi, CHU of Montpellier, France