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Article

Diseases of unstable repeat expansion: mechanisms and common principles.

Nature reviews. Genetics - 1 Oct 2005

Gatchel Jennifer R, Zoghbi Huda Y

Abstract excerpt

The list of developmental and degenerative diseases that are caused by expansion of unstable repeats continues to grow, and is now approaching 20 disorders. The pathogenic mechanisms that underlie these disorders involve either loss of protein function or gain of function at the protein or RNA level. Common themes have emerged within and between these different classes of disease; for example, among disorders...

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PMID: 16205714
DOI: 10.1038/nrg1691

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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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