Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype by Muriel Giansily-Blaizot, Séverine Cunat, Grégory Moulis, Jean-François Schved, Patricia Aguilar-Martinez

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Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl by Patricia Aguilar-Martinez, Chun Yu Lok, Séverine Cunat, Estelle Cadet, Kathryn Robson, Jacques Rochette

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HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload by Patricia Aguilar-Martinez, Muriel Giansily-Blaizot, Michael Bismuth, Séverine Cunat, Hélène Igual, Jean François Schved

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Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants by Patricia Aguilar-Martinez, Bernard Grandchamp, Séverine Cunat, Estelle Cadet, François Blanc, Marlène Nourrit, Kaiss Lassoued, Jean-François Schved, Jacques Rochette

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P1499: GENETIC FACTORS OF IRON OVERLOAD IN HEREDITARY SPHEROCYTOSIS by Lucie Donaty, Muriel Giansily Blaizot, Severine Cunat, Vincent Azoury, Corinne Favier, Vanessa Debant, Fabienne Danton, Robert Navarro, Perrine Mahé, Patricia Aguilar Martinez

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The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance by Patricia Aguilar-Martinez, Michael Bismuth, François Blanc, Pierre Blanc, Severine Cunat, Olivier Dereure, Pierre Dujols, Muriel Giansily-Blaizot, Christian Jorgensen, Amadou Konate, Dominique Larrey, Alain Le Quellec, Thibault Mura, Isabelle Raingeard, Jeanne Ramos, Eric Renard, Florence Rousseau, Jean-François Schved, Marie-Christine Picot

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