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Splice-site mutation

Definition(s)

A mutation that alters or abolishes the specific sequence denoting the site at which the splicing of an intron takes place. Such mutations result in one or more introns remaining in the mature messenger RNA and can disrupt the generation of the protein product

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

See also Understanding Medical Terminology.

 
Published: December 16, 2014