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Trinucleotide Repeat Expansions: Disorders

Authors :
David L. Nelson
Huda Y. Zoghbi
Source :
eLS
Publication Year :
2006
Publisher :
Wiley, 2006.

Abstract

Trinucleotide repeat mutations, also known as dynamic mutations, were discovered only in the early 1990s, but are responsible for many important neurological disorders, such as Huntington disease, fragile X mental retardation and myotonic dystrophy. Keywords: triplet repeat; dynamic mutation; polyglutamine; Huntington disease; protein aggregate; spinocerebellar ataxia

Details

Database :
OpenAIRE
Journal :
eLS
Accession number :
edsair.doi...........ced21a170695962115c276d96a07d27d
Full Text :
https://doi.org/10.1038/npg.els.0005528