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Article

Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences - 1 Jun 2011

Wang Junling, Shen Lu, Lei Lifang, Xu Qian, Zhou Jie, Liu Yutao, Guan Wenjuan, Pan Qian, Xia Kun, Tang Beisha, Jiang Hong

Abstract excerpt

OBJECTIVE: To undertake an updated genetic spectrum analysis in patients with hereditary spinocerebellar ataxia (SCA) in mainland China. METHODS: SCA 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy (DRPLA) nucleotide repeat mutations were detected in 430 families with autosomal dominant SCA (ADCA) and 237 patients with sporadic ataxias by PCR and DNA sequencing. Subsequently, point and Indel...

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PMID: 21743138
DOI: 10.3969/j.issn.1672-7347.2011.06.003

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