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Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

OBJECTIVES: To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan. METHODS: Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The...

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Detalles Bibliográficos
Autores principales:	Chou, Cheng‐Ta, Soong, Bing‐Wen, Lin, Kon‐Ping, Tsai, Yu‐Shuen, Jih, Kang‐Yang, Liao, Yi‐Chu, Lee, Yi‐Chung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7187706/ https://www.ncbi.nlm.nih.gov/pubmed/32202070 http://dx.doi.org/10.1002/acn3.51019

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