https://www.selleckchem.com/products/cpi-0610.html
The genetic diagnosis of tuberous sclerosis complex is difficult because of its broad spectrum of mutations. In addition to point mutations in coding regions, intragenic or chromosomal-level large deletions, deep intronic splicing mutations, and mosaic mutations represent a significant proportion of the mutations. In this study, multimodular, long-range PCR-based next-generation sequencing assays were optimized and validated using 100 samples with known TSC1 and TSC2 variants. Multiplex, long-range PCR covering the entire genomic r
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