Functional Evaluation of Splice Variants Using a Minigene Strategy.

doi:10.1007/978-1-0716-4726-4_11

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Article

Functional Evaluation of Splice Variants Using a Minigene Strategy.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2025

Nizou Angélique, Mahfoud Lana, Janin Alexandre, Lia Anne-Sophie

Abstract excerpt

Suspected splicing variants can be very challenging to evaluate more particularly when RNA samples are not available to perform RNA sequencing or when the gene of interest is expressed in specific tissues not easily reachable. One alternative strategy to study the potential splicing effect of a variant is to use the patient's DNA. Indeed, it is easily possible to amplify the region of interest and include it in...

Topics

Humans
RNA Splicing
Alternative Splicing
Mutation
Transfection

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Open in PubMed

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PMID: 40699428
DOI: 10.1007/978-1-0716-4726-4_11

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