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- W1992479558 abstract "Background: Age-related macular degeneration (AMD) is a multifactorial disease for which an involvement of alterations in the retinal ABC transporter gene (ABCA4) is still debated. Oxidative stress in retinal pigment epithelial cells has been postulated to contribute to the pathogenesis of the disease. Mitochondrial ferritin (FtMt), an iron-sequestering protein, is expressed in cell types characterized by high metabolic activity and oxygen consumption, including human retina, suggesting a role in protecting mitochondria from iron-dependent oxidative damage. Based on these findings we wanted to investigate whether mutations in this gene could be found in AMD patients." @default.
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- W1992479558 date "2012-01-01" @default.
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- W1992479558 title "Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations" @default.
- W1992479558 doi "https://doi.org/10.1515/cclm-2011-0854" @default.
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