Genetic & Genomic MedicineMolecular Genetics & Genomic MedicinePeer-reviewed
High Throughput Screening for Expanded CTG repeats in Myotonic Dystrophy Type 1 Using Melt Curve Analysis
Russell J. Butterfield, Carina E. Imburgia, Katie Mayne…·Robert B. Weiss
The paper develops a high throughput, low-cost method for detecting CTG repeat expansions in DM1 using TP-PCR and melt curve analysis, showing accurate identification of alleles in newborn blood spots.
7 citations