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Article

Repeat instability: mechanisms of dynamic mutations.

Nature reviews. Genetics - 1 Oct 2005

Pearson Christopher E, Nichol Edamura Kerrie, Cleary John D

Abstract excerpt

Disease-causing repeat instability is an important and unique form of mutation that is linked to more than 40 neurological, neurodegenerative and neuromuscular disorders. DNA repeat expansion mutations are dynamic and ongoing within tissues and across generations. The patterns of inherited and tissue-specific instability are determined by both gene-specific cis-elements and trans-acting DNA metabolic proteins....

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Identifiers

PMID: 16205713
DOI: 10.1038/nrg1689

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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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