Schematic overview of the SMN-coding genes, the primers and probe used in this study.
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posted on 2024-08-01, 17:33 authored by Masaki Hirano, Kentaro Sahashi, Yuki Ichikawa, Masahisa Katsuno, Atsushi NatsumeThe five different nucleotides between the SMN1 and SMN2 exon7 peri-regions are shown (SMN1>SMN2). Both forward primers shown here target c.840 cite, while the reverse primer designed in this study also targets c.888+100 cite. The red-letter bases of the primers are complementary to the different bases between the two genes.
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spinal muscular atrophydiv >< pbest primer pair50 independent experimentsraw saliva specimensanalyzed saliva specimenssignificant turnaround timemodifying therapies withinnewborn mass screeningnewly developed assayfour sma carrierssignificant impactseveral therapiesassay coulddna specimenssuspected smaspecialized laboratoriessmn2 smn1 sma demonstratedrequires testingreceive diseaseprompt treatmentoutpatient clinicordinary hospitalshomozygous deletionshealthy individualsexon 7early diagnosisbiallelic lossamplification efficiency100 combinations
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