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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...
Autores principales: | Sandford, Erin, Burmeister, Margit |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2014
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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 |
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