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Genes and Genetic Testing in Hereditary Ataxias

Ataxia is a neurological cerebellar disorder characterized by loss of coordination during muscle movements affecting walking, vision, and speech. Genetic ataxias are very heterogeneous, with causative variants reported in over 50 genes, which can be inherited in classical dominant, recessive, X-link...

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Detalles Bibliográficos
Autores principales: Sandford, Erin, Burmeister, Margit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198919/
https://www.ncbi.nlm.nih.gov/pubmed/25055202
http://dx.doi.org/10.3390/genes5030586