Article
Bilateral cataract in a subject carrying a C to A transition in the L ferritin promoter region.
Clinical biochemistry - 1 Jun 2009
Faniello Maria Concetta, Di Sanzo Maddalena, Quaresima Barbara, Nisticò Antonia, Fregola Annalisa, Grosso Michela, Cuda Giovanni, Costanzo Francesco
Abstract excerpt
OBJECTIVES: The aim of this study is to evaluate the potential impact of mutations in the promoter region of the L ferritin gene on its transcriptional activity. DESIGN AND METHODS: To search for the presence of mutations in the promoter of the L gene, we amplified by PCR a DNA region of about 385 n.t. in 100 healthy subjects from Southern Italy. RESULTS: A subject carrying a C to A transition in position -216...
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