MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia

BACKGROUND: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression. Studies of cell and mouse models have revealed a role for the mismatch rep...

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Autors principals: Ezzatizadeh, Vahid, Sandi, Chiranjeevi, Sandi, Madhavi, Anjomani-Virmouni, Sara, Al-Mahdawi, Sahar, Pook, Mark A.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2014
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4074104/
https://ncbi.nlm.nih.gov/pubmed/24971578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0100523
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