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Definition 2024


premutation

premutation

English

Adjective

premutation (not comparable)

  1. Prior to mutation
    • 2015 July 30, “Positron Emission Tomography (PET) Quantification of GABA A Receptors in the Brain of Fragile X Patients”, in PLOS ONE, DOI:10.1371/journal.pone.0131486:
      Fragile X syndrome is caused by mutations in the FMR1-gene, which is characterized by an expansion of a CGG triplet in the 5’ UTR. Normal individuals have 6–44 CGG repeats, while carriers of gray zone or premutation alleles have 45–54 and 55–200 repeats, respectively.