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Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype
BACKGROUND: Spinocerebellar ataxia (SCA) is an uncommon form of progressive cerebellar ataxia with multiple genetic causes and marked variability in phenotypic expression even across patients with identical genetic abnormalities. SCA27 is a recently identified SCA caused by mutations in the Fibrobla...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Columbia University Libraries/Information Services
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5801325/ https://www.ncbi.nlm.nih.gov/pubmed/29416937 http://dx.doi.org/10.7916/D80S0ZJQ |