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PubMed · 8353413

Trinucleotide repeats and genome variation.

D P Kuhl·C T Caskey
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Abstract

The recent cloning of several disease genes has identified the instability of trinucleotide repeats as a fundamental mechanism for variation within the human genome. This mutation mechanism explains the unique inheritance characteristics of the diseases it causes, and there is a significant potential that this mechanism is involved in the pathogenesis of other, as yet uncharacterized, genetic diseases.

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Genetic Diseases, InbornGenetic VariationGenome, HumanHumansRepetitive Sequences, Nucleic AcidJournal ArticleReview

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D P Kuhl, C T Caskey. 1993. Trinucleotide repeats and genome variation.. https://doi.org/10.1016/0959-437x(93)90112-3

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