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Article

CTG trinucleotide repeat "big jumps": large expansions, small mice.

PLoS genetics - 6 Apr 2007

Gomes-Pereira Mário, Foiry Laurent, Nicole Annie, Huguet Aline, Junien Claudine, Munnich Arnold, Gourdon Geneviève

Abstract excerpt

Trinucleotide repeat expansions are the genetic cause of numerous human diseases, including fragile X mental retardation, Huntington disease, and myotonic dystrophy type 1. Disease severity and age of onset are critically linked to expansion size. Previous mouse models of repeat instability have not recreated large intergenerational expansions ("big jumps"), observed when the repeat is transmitted from one...

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Identifiers

PMID: 17411343
DOI: 10.1371/journal.pgen.0030052
PMCID: PMC1847694

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