Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han

Wang, Junling; Jiang, Hong; Zhang, Shen; Xu, Qian; Zhou, Yifei; Liao, Shusheng; Shen, Lu; Yan, Xinxiang; Zhu, Huai-Xu; Pan, Qian; Xia, Kun; Tang, Beisha

doi:10.1007/s12041-008-0045-z

J Genet

2008

DOI: 10.1007/s12041-008-0045-z

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Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han

Junling Wang

Hong Jiang

Shen Zhang

et al.

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Cited by 2 publications

References 16 publications

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Spinocerebellar ataxia type 11 in the Chinese Han population

Wang

et al. 2009

Neurol Sci

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The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative diseases. Researchers have recently found that SCA type 11 (SCA11) is associated with mutations in the TTBK2 gene. In our previous work, we performed mutation detection in SCA1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy gene in Chinese SCA patients, but the genes responsible for approximately 40% of our patients have not yet been identified. To investigate the frequency of SCA11 in Chinese SCA patients, we examined the TTBK2 gene in 68 unrelated probands diagnosed with dominantly inherited ataxia using the denaturing high-performance liquid chromatography method. All analyzed samples displayed the normal elution profile, which denoted that no disease-related mutation was identified. We provided the evidence that SCA11 is a rare form of ataxia in China.

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Spinocerebellar ataxia type 11 in the Chinese Han population

Wang

et al. 2009

Neurol Sci

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Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population

Liu

Tang

Wang

et al. 2012

Neuroscience Letters

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Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han

Cited by 2 publications

References 16 publications

Spinocerebellar ataxia type 11 in the Chinese Han population

Spinocerebellar ataxia type 11 in the Chinese Han population

Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population

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