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Role of Mismatch Repair Enzymes in GAA·TTC Triplet-repeat Expansion in Friedreich Ataxia Induced Pluripotent Stem Cells

The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the triplet-repeat sequence GAA·TTC within the first intron of the FXN gene. Although yeast and reporter construct models for GAA·TTC triplet-repeat expansion have been reported, studies on FRDA pathogenesis and therapeutic deve...

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Detalhes bibliográficos
Main Authors: Du, Jintang, Campau, Erica, Soragni, Elisabetta, Ku, Sherman, Puckett, James W., Dervan, Peter B., Gottesfeld, Joel M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3436184/
https://ncbi.nlm.nih.gov/pubmed/22798143
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.391961
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