Article
Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Dec 1996
Timchenko L T, Caskey C T
Abstract excerpt
Several human disorders are now known to be caused by expansion of unstable trinucleotide repeat sequences, including fragile X syndrome (FRAX), myotonic dystrophy (DM), spinal and bulbar muscular atrophy (SBMA, also known as Kennedy disease), Huntington disease (HD), dentatorubral-pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 1 (SCA1), Machado-Joseph disease (MJD), and Friedreich ataxia. As these...
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