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- W2017019446 abstract "Duchenne and Becker muscular dystrophy (DMD/BMD) are severe X-linked neuromuscular disorders caused by mutations in the dystrophin gene. Our aim was to optimize a quantitative real-time PCR method based on SYBR? Green I chemistry for routine diagnostics of DMD/BMD deletion carriers. Twenty female relatives of DMD/BMD patients with previously detected partial gene deletions were studied. The relative quantity of the target exons was calculated by a comparative threshold cycle method (??Ct). The carrier status of all subjects was successfully determined. The gene dosage ratio for non-carriers was 1.07?0.20, and for carriers 0.56?0.11. This assay proved to be simple, rapid, reliable and cost-effective." @default.
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- W2017019446 date "2012-01-01" @default.
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- W2017019446 title "Quantitative analysis of the dystrophin gene by real-time PCR" @default.
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- W2017019446 doi "https://doi.org/10.2298/abs1202787m" @default.
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