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Spinocerebellar ataxia type 36 in the Han Chinese

OBJECTIVE: To ascertain the genetic and clinical characteristics of the GGCCTG hexanucleotide repeat expansion in the nucleolar protein 56 gene (NOP56) in patients with spinocerebellar ataxia (SCA), sporadic ataxia, or amyotrophic lateral sclerosis (ALS) in Taiwan. METHODS: We conducted clinical and...

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Detalles Bibliográficos
Autores principales: Lee, Yi-Chung, Tsai, Pei-Chien, Guo, Yuh-Cherng, Hsiao, Cheng-Tsung, Liu, Guan-Ting, Liao, Yi-Chu, Soong, Bing-Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830187/
https://www.ncbi.nlm.nih.gov/pubmed/27123487
http://dx.doi.org/10.1212/NXG.0000000000000068