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Methods Mol Biol. 2013;1010:3-17. doi: 10.1007/978-1-62703-411-1_1.

A brief history of triplet repeat diseases.

Author information

1
Life 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.

PMID:
23754215
PMCID:
PMC3913379
DOI:
10.1007/978-1-62703-411-1_1
[Indexed for MEDLINE]
Free PMC Article

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