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- W2022398596 abstract "RNA single-strand conformation polymorphism (rSSCP) is a recently developed method for detecting genetic defects. This technique requires DNA amplification with a polymerase chain reaction making use of one T7 promoter-containing primer. Amplification products are subsequently transcribedin vitroand the labelled transcripts are analysed for single-strand conformation changes. rSSCP has been applied to mutation screening of the phenylalanine hydroxylase gene and rBAT cDNA, from PKU and cystinuric patients, respectively. Experimental evidence shows that 83% and 86% of screened PKU and cystinuric mutations, respectively, give rise to detectable rSSCP signals. Thus, results obtained show that RNA single-strand conformation polymorphism analysis is generally applicable and is a suitable technique for detecting genetic disease causing mutations, both in basic research and in clinical practice." @default.
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- W2022398596 date "1995-06-01" @default.
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- W2022398596 title "Molecular screening of genetic defects with RNA–SSCP analysis: the PKU and cystinuria model" @default.
- W2022398596 doi "https://doi.org/10.1006/mcpr.1995.0032" @default.
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