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• W2059892754 abstract "To describe and validate a new protocol for molecular diagnosis of spinal muscular atrophy (SMA), a frequent neuromuscular disease of childhood. SMA is caused in most cases by homozygous deletion of the SMN1 gene. We describe a triplex quantitative real-time PCR method in which fragments of SMN1, SMN2 (a nearly-identical neighboring gene with markedly reduced function) and of a control gene, CFTR, are amplified in the same tube. We validated this method in three ways. First, testing the same samples ten times yielded CV values < 4.6%. Second, in 104 previously-genotyped individuals, SMN copy numbers identical to those of the previously-determined genotype was unambiguously obtained in all cases. Finally, results using the technique in practice are described and analyzed for reproducibility of amplification efficiency and for inter-run variability. In over 1200 samples, this technique has proven accurate, fast, economical and reproducible." @default.
• W2059892754 created "2016-06-24" @default.
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• W2059892754 date "2012-01-01" @default.
• W2059892754 modified "2023-09-27" @default.
• W2059892754 title "Spinal muscular atrophy: Clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers" @default.
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• W2059892754 doi "https://doi.org/10.1016/j.clinbiochem.2011.10.019" @default.
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