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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發表在:J Neurol
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2014
主題:
Original Communication
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4221650/
https://ncbi.nlm.nih.gov/pubmed/25182700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-014-7476-7
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