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Examples of size and methylation mosaic patterns in female premutation alleles detected using methylation PCR (mPCR). A and B: An example profile, LUMC14 (A), wherein the entire premutation allele is partially methylated compared to B, a profile in which the premutation allele is split into a group of fully methylated peaks and a group of unmethylated peaks. C: A similar profile highlighting size and methylation mosaicism in these alleles.
