Investigating the hypermethylation and triplet-repeat expansion of Friedreich’s Ataxia using PCR-free targeting
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- Investigating the hypermethylation and triplet-repeat expansion of Friedreich’s Ataxia using PCR-free targeting
Both hypermethylation and repeat expansion are found in intron 1 of the frataxin locus in Friedreich’s Ataxia, and are associated with low levels of gene transcription and with disease symptoms