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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 MutSβ complex. It has be...

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Detalles Bibliográficos
Autores principales: Tomé, Stéphanie, Holt, Ian, Edelmann, Winfried, Morris, Glenn E., Munnich, Arnold, Pearson, Christopher E., Gourdon, Geneviève
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674216/
https://www.ncbi.nlm.nih.gov/pubmed/19436705
http://dx.doi.org/10.1371/journal.pgen.1000482