Article
Trinucleotide instability: a repeating theme in human inherited disorders.
Annual review of medicine - 1 Jan 1996
Gusella J F, MacDonald M E
Abstract excerpt
In recent years, a completely new mechanism of mutation has emerged in a number of disorders that display perplexing and paradoxical features of genetic inheritance. This mechanism involves the expansion and intergenerational instability of stretches of consecutive identical nucleotide triplets that also exist as shorter stable segments on normal chromosomes. The unstable nature of the trinucleotide segments has...
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