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Long Range Regulation of Human FXN Gene Expression
BACKGROUND: Friedreich ataxia (FRDA) is the most common form of hereditary ataxia characterized by the presence of a GAA trinucleotide repeat expansion within the first intron of the FXN gene. The expansion inhibits FXN gene expression resulting in an insufficiency of frataxin protein. METHODOLOGY/P...
Autores principales: | Puspasari, Novita, Rowley, Simone M., Gordon, Lavinia, Lockhart, Paul J., Ioannou, Panos A., Delatycki, Martin B., Sarsero, Joseph P. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132285/ https://www.ncbi.nlm.nih.gov/pubmed/21760943 http://dx.doi.org/10.1371/journal.pone.0022001 |
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