Frequency of SCA1, SCA2, SCA3/MJD, SCA6, SCA7, and DRPLA CAG trinucleotide repeat expansion
in patients with hereditary spinocerebellar ataxia from Chinese kindreds.
Trinucleotide repeat expansion
in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities.
Relationship between trinucleotide repeat expansion
and phenotypic variation in Huntington's disease.
A novel PCR-based approach for the detection of the Huntington disease associated trinucleotide repeat expansion
The abbreviated process likely will be sufficient for all mutations except trinucleotide repeat expansion
mutations, which would require special handling as discussed above.
After a 10-year struggle, during which fundamental strategies of positional cloning were developed, the causative mutation, a CAG trinucleotide repeat expansion
, was identified (4).