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Premutation

Synonym(s)

  • intermediate allele

Definition(s)

In disorders caused by trinucleotide repeat expansions, an abnormally large allele that is not associated with clinical symptoms but that can expand into a full mutation when transmitted to offspring (Full mutations are associated with clinical symptoms of the disorder.)

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: May 20, 2013