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[Mutation analysis of a Chinese family with spinocerebellar ataxia 7].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2010

Yu Jia, Ma Jian-hua, Lei Jing, Li Hai-tao, Zhang Xiao-ning

Abstract excerpt

OBJECTIVE: To characterize the clinical phenotype and the gene mutation of the spinocerebellar ataxia 7 (SCA7) family. METHODS: Two patients from a two generation Hui Chinese pedigree were detected by gene test. Polymerase chain reaction (PCR) for CAG trinucleotide repeats was performed for the SCA7 gene, and the fragments with expanded alleles were subcloned into the pGEM-T plasmids and sequenced. RESULTS:...

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PMID: 21154334
DOI: 10.3760/cma.j.issn.1003-9406.2010.06.019

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