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[Molecular and prenatal diagnosis of a pedigree with spinocerebellar ataxia].

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

Cao Dong-hua, Ren Mei-hong, Liu Xiao-li, Jin Chun-lian, Meng Zhao-yi, Qiu Guang-bin

Abstract excerpt

OBJECTIVE: To identify the type of a pedigree with spinocerebellar ataxia, and carry out asymptomatic carrier detection and prenatal diagnosis. METHODS: The blood samples of two patients in the spinocerebellar ataxia pedigree were collected. Based on the clinical characteristics of the pedigree and the disease incidence in China, the regions containing the CAG repeat of the SCA1, SCA2 and SCA3/MJD genes were...

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Identifiers

PMID: 20533274
DOI: 10.3760/cma.j.issn.1003-9406.2010.0.018

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