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Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models
In 1996, a link was identified between Friedreich’s ataxia (FRDA), the most common inherited ataxia in men, and alterations in the gene encoding frataxin (FXN). Initial studies revealed that the disease is caused by a unique, most frequently biallelic, expansion of the GAA sequence in intron 1 of FX...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists Limited
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3291638/ https://www.ncbi.nlm.nih.gov/pubmed/22382366 http://dx.doi.org/10.1242/dmm.008706 |