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The Pathogenic Role of Low Range Repeats in SCA17

INTRODUCTION: SCA17 is an autosomal dominant cerebellar ataxia with expansion of the CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. SCA17 can have various clinical presentations including parkinsonism, ataxia, chorea and dystonia. SCA17 is diagnosed by detecting the expanded C...

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Detalles Bibliográficos
Autores principales:	Shin, Jung Hwan, Park, Hyeyoung, Ehm, Gwan Hee, Lee, Woong Woo, Yun, Ji Young, Kim, Young Eun, Lee, Jee-Young, Kim, Han-Joon, Kim, Jong-Min, Jeon, Beom Seok, Park, Sung-Sup
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534202/ https://www.ncbi.nlm.nih.gov/pubmed/26267067 http://dx.doi.org/10.1371/journal.pone.0135275

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