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Article

The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence.

Cytogenetic and genome research - 1 Jan 2003

Cleary J D, Pearson C E

Abstract excerpt

Alterations in the length (instability) of gene-specific microsatellites and minisatellites are associated with at least 35 human diseases. This review will discuss the various cis-elements that contribute to repeat instability, primarily through examination of the most abundant disease-associated repetitive element, trinucleotide repeats. For the purpose of this review, we define cis-elements to include the...

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PMID: 14526163
DOI: 10.1159/000072837

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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