Article
Minigenes to confirm exon skipping mutations.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2012
Desviat Lourdes R, Pérez Belén, Ugarte Magdalena
Abstract excerpt
Although several bioinformatic tools exist to predict the effect on splicing of a nucleotide change, experimental verification with minigenes is essential for diagnostic purposes, as well as for revealing disease mechanisms and monitoring therapeutic interventions. Minigenes are splice reporter vectors (also known as exon-trapping vectors) that allow confirmation of the effect of mutations on the splicing...
Topics
- Animals
- Cell Culture Techniques
- Cell Line
- Cloning, Molecular
- Exons
- Humans
- Introns
- Mutation
- RNA
- RNA Splice Sites
- RNA Splicing
- Reverse Transcriptase Polymerase Chain Reaction