Comprehensive Exonic Sequencing of Known Ataxia Genes in Episodic Ataxia

Episodic Ataxias (EAs) are a small group (EA1–EA8) of complex neurological conditions that manifest as incidents of poor balance and coordination. Diagnostic testing cannot always find causative variants for the phenotype, however, and this along with the recently proposed EA type 9 (EA9), suggest t...

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Detalles Bibliográficos
Autores principales: Maksemous, Neven, Sutherland, Heidi G., Smith, Robert A., Haupt, Larisa M., Griffiths, Lyn R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277596/
https://www.ncbi.nlm.nih.gov/pubmed/32466254
http://dx.doi.org/10.3390/biomedicines8050134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277596/
https://www.ncbi.nlm.nih.gov/pubmed/32466254
http://dx.doi.org/10.3390/biomedicines8050134

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