Article
Defining the performance parameters of a rapid screening tool for myotonic dystrophy type 1 based on triplet-primed PCR and melt curve analysis.
Expert review of molecular diagnostics - 1 Nov 2016
Lian Mulias, Law Hai-Yang, Lee Caroline G, Chong Samuel S
Abstract excerpt
BACKGROUND: DMPK CTG-repeat expansions that cause myotonic dystrophy type 1 (DM1) can be detected more rapidly, cost-effectively, and simply by combining triplet-primed PCR (TP-PCR) with melting curve analysis (MCA). We undertook a detailed technical validation study to define the optimal operational parameters for performing bidirectional TP-PCR MCA assays. METHODS: We determined the assays' analytic specificity...
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