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Spinocerebellar ataxia type 2 in China: Molecular analysis and genotype-phenotype correlation in nine families

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单位: [1]NINDS, Clin Neurogenet Unit, Med Neurol Branch, NIH, Bethesda, MD 20892 USA [2]China Japan Friendship Hosp, Neurogenet Unit, Beijing, Peoples R China [3]China Japan Friendship Hosp, Dept Neurol, Beijing, Peoples R China [4]Hunan Med Univ, Dept Neurol, Changsha, Peoples R China [5]Hunan Med Univ, Inst Neurol, Changsha, Peoples R China [6]Peking Union Med Coll, Chinese Acad Med Sci, Inst Canc, Natl Lab Mol Oncol, Beijing, Peoples R China [7]First Peoples Hosp XuZhou, Dept Neurol, XuZhou, Peoples R China [8]Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan [*1]NINDS, Clin Neurogenet Unit, Med Neurol Branch, NIH, Bldg 36,Room 4D03,36 Convent Dr,MSC 4129, Bethesda, MD 20892 USA
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Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats, whereas the normal alleles carried 14 to 28 repeats. One or two CAA triplets within the CAG tract were seen in normal, but not in the expanded alleles, A strong inverse correlation was established between the number of CAG repeats and the age of disease onset. SCA2 accounted for 12% of the known Chinese families with spinocerebellar ataxia.

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大类 | 1 区 医学
小类 | 1 区 临床神经病学
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出版当年[1996]版:
最新[2023]版:
Q1 CLINICAL NEUROLOGY

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通讯机构: [*1]NINDS, Clin Neurogenet Unit, Med Neurol Branch, NIH, Bldg 36,Room 4D03,36 Convent Dr,MSC 4129, Bethesda, MD 20892 USA
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