ANO10 mutations cause ataxia and coenzyme Q(10) deficiency

Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for pa...

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Detalles Bibliográficos
Autores principales: Balreira, Andrea, Boczonadi, Veronika, Barca, Emanuele, Pyle, Angela, Bansagi, Boglarka, Appleton, Marie, Graham, Claire, Hargreaves, Iain P., Rasic, Vedrana Milic, Lochmüller, Hanns, Griffin, Helen, Taylor, Robert W., Naini, Ali, Chinnery, Patrick F., Hirano, Michio, Quinzii, Catarina M., Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221650/
https://www.ncbi.nlm.nih.gov/pubmed/25182700
http://dx.doi.org/10.1007/s00415-014-7476-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221650/
https://www.ncbi.nlm.nih.gov/pubmed/25182700
http://dx.doi.org/10.1007/s00415-014-7476-7

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