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Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5

22 Mar 2020

Abstract excerpt

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 diagnosis of SPG5 was ascertained by the presence of biallelic CYP7B1 mutations. The SPG5 patients received...

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PMID: 32202070
DOI: 10.1002/acn3.51019

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