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MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.

Myotonic dystrophy type 1 (DM1) is associated with one of the most highly unstable CTG*CAG repeat expansions. The formation of further repeat expansions in transgenic mice carrying expanded CTG*CAG tracts requires the mismatch repair (MMR) proteins MSH2 and MSH3, forming the MutSbeta complex. It has...

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Principais autores: Stéphanie Tomé, Ian Holt, Winfried Edelmann, Glenn E Morris, Arnold Munnich, Christopher E Pearson, Geneviève Gourdon
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science (PLoS) 2009-05-01
Serier:PLoS Genetics
Online adgang:http://europepmc.org/articles/PMC2674216?pdf=render
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