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Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia

Friedreich ataxia (FRDA) is a member of the Repeat Expansion Diseases, a group of genetic conditions resulting from an increase/expansion in the size of a specific tandem array. FRDA results from expansion of a GAA/TTC-tract in the first intron of the frataxin gene (FXN). The disease-associated tand...

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Publicado en:Mutat Res
Autores principales: Kumari, Daman, Hayward, Bruce, Nakamura, Asako J., Bonner, William M., Usdin, Karen
Formato: Artigo
Lenguaje:Inglês
Publicado: 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4631761/
https://ncbi.nlm.nih.gov/pubmed/26379101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.mrfmmm.2015.08.007
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