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论文题目: Mutation analysis of CHCHD2 gene in Chinese Han familial essential tremor patients and familial Parkinson's disease patients
英文论文题目: Mutation analysis of CHCHD2 gene in Chinese Han familial essential tremor patients and familial Parkinson's disease patients
第一作者: Gao, C; Chen, YM; Sun, Q; He, YC; Huang, P; Wang, T; Li, DH; Liang, L; Liu, J; Xiao, Q; Chen, SD
英文第一作者: Gao, C; Chen, YM; Sun, Q; He, YC; Huang, P; Wang, T; Li, DH; Liang, L; Liu, J; Xiao, Q; Chen, SD
联系作者: Chen, SD (reprint author), Ruijin Hosp, Dept Neurol, 197 Ruijin Er Rd, Shanghai, Peoples R China.
英文联系作者: Chen, SD (reprint author), Ruijin Hosp, Dept Neurol, 197 Ruijin Er Rd, Shanghai, Peoples R China.
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发表年度: 2017
卷: 49
期:
页码: -
摘要: CHCHD2 is the latest identified Parkinson's disease (PD)-causing gene, and previous studies have reported the same CHCHD2 variant (182C>T, Thr61Ile) in both PD and essential tremor (ET) patients. Whether CHCHD2 gene mutations are involved in both of these diseases remains unclear. We sequenced CHCHD2 gene in 171 familial ET patients, 133 autosomal dominant Parkinson's disease patients, and 211 normal controls. No pathogenic mutations were found, suggesting that CHCHD2 gene may not play a major role in our familial Chinese Han ET and PD patients.
英文摘要: CHCHD2 is the latest identified Parkinson's disease (PD)-causing gene, and previous studies have reported the same CHCHD2 variant (182C>T, Thr61Ile) in both PD and essential tremor (ET) patients. Whether CHCHD2 gene mutations are involved in both of these diseases remains unclear. We sequenced CHCHD2 gene in 171 familial ET patients, 133 autosomal dominant Parkinson's disease patients, and 211 normal controls. No pathogenic mutations were found, suggesting that CHCHD2 gene may not play a major role in our familial Chinese Han ET and PD patients.
刊物名称: NEUROBIOLOGY OF AGING
英文刊物名称: NEUROBIOLOGY OF AGING
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学科: Geriatrics & Gerontology; Neurosciences
英文学科: Geriatrics & Gerontology; Neurosciences
影响因子: 5.117
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论文类别: Article
英文论文类别: Article
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