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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...

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Publicat a:Tremor Other Hyperkinet Mov (N Y)
Autors principals: Groth, Christopher L., Berman, Brian D.
Format: Artigo
Idioma:Inglês
Publicat: Columbia University Libraries/Information Services 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5801325/
https://ncbi.nlm.nih.gov/pubmed/29416937
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7916/D80S0ZJQ
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