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Article

Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.

PLoS genetics - 1 Jan 2013

Axford Michelle M, Wang Yuh-Hwa, Nakamori Masayuki, Zannis-Hadjopoulos Maria, Thornton Charles A, Pearson Christopher E

Abstract excerpt

Slipped-strand DNAs, formed by out-of-register mispairing of repeat units on complementary strands, were proposed over 55 years ago as transient intermediates in repeat length mutations, hypothesized to cause at least 40 neurodegenerative diseases. While slipped-DNAs have been characterized in vitro, evidence of slipped-DNAs at an endogenous locus in biologically relevant tissues, where instability varies widely,...

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Identifiers

PMID: 24367268
DOI: 10.1371/journal.pgen.1003866
PMCID: PMC3868534

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Source receipt: pubmed, retrieved 7 Sept 2026.

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