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...

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Detalles Bibliográficos
Autores principales: Al-Mahdawi, Sahar, Ging, Heather, Bayot, Aurelien, Cavalcanti, Francesca, La Cognata, Valentina, Cavallaro, Sebastiano, Giunti, Paola, Pook, Mark A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neuroscience
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

Internet

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

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