Trinucleotide instability: a repeating theme in human inherited disorders.

doi:10.1146/annurev.med.47.1.201

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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 t...

Topics

Chromosome Aberrations
Chromosome Disorders
Fragile X Syndrome
Genetic Diseases, Inborn
Humans
Huntington Disease
Mutation
Myotonic Dystrophy
Protein Biosynthesis
Spinocerebellar Degenerations
Trinucleotide Repeats

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