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Updated: May 10, 2026

Electrophoretic Analysis of Replication Through Structure-Prone DNA Repeats Within the SV40-Based Human Episome
Published on: September 13, 2024
A brief history of triplet repeat diseases
Helen Budworth1, Cynthia T McMurray
1Life Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Abstract:
Instability of repetitive DNA sequences within the genome is associated with a number of human diseases. The expansion of trinucleotide repeats is recognized as a major cause of neurological and neuromuscular diseases, and progress in understanding the mutations over the last 20 years has been substantial. Here we provide a brief summary of progress with an emphasis on technical advances at different stages.
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