Definify.com
Definition 2024
premutation
premutation
English
Adjective
premutation (not comparable)
- 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::
- 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.
-