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Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial dysfunction, oxidative stress, and cell death...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258883/ https://www.ncbi.nlm.nih.gov/pubmed/30519163 http://dx.doi.org/10.3389/fncel.2018.00443 |