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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, Muriel; Cunat, Séverine; Moulis, Grégory; Schved, Jean-François; Aguilar-Martinez, Patricia.
Haematologica ; 98(4): e42-3, 2013 Apr.
Article in En | MEDLINE | ID: mdl-23300176
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Apoferritins / Cataract / Iron Metabolism Disorders / 5' Untranslated Regions / Mutation Limits: Female / Humans / Male / Middle aged Language: En Journal: Haematologica Year: 2013 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Apoferritins / Cataract / Iron Metabolism Disorders / 5' Untranslated Regions / Mutation Limits: Female / Humans / Male / Middle aged Language: En Journal: Haematologica Year: 2013 Document type: Article