Article
Hypermutable myotonic dystrophy CTG repeats in transgenic mice.
Nature genetics - 1 Feb 1997
Monckton D G, Coolbaugh M I, Ashizawa K T, Siciliano M J, Caskey C T
Abstract excerpt
Myotonic dystrophy (DM) is one of a growing number of inherited human disorders associated with the expansion of triplet repeat DNA sequences. Expanded alleles are highly unstable in both the germline and soma, accounting in large part for the unusual genetics of this disorder, its phenotypic variability and probably, the progressive nature of the symptoms. However, the molecular mechanisms and the genetic...
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