Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3) patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 pa...

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Bibliographic Details
Main Authors: Jing LI, Cheng ZHANG, Yi⁃xin ZHANG, Shan⁃wei FENG, Juan YANG, Ji⁃qing CAO, Chang⁃shun YU, Ya⁃qin LI, Yan⁃yun WANG, Fei CHEN, Jie KONG, Min⁃ying ZHENG, Ling LIAO
Format: Article
Language:English
Published: Tianjin Huanhu Hospital 2012-06-01
Series:Chinese Journal of Contemporary Neurology and Neurosurgery
Subjects:
Spinocerebellar ataxias
Trinucleotide repeat expansion
Genetic counseling consultation
Prenatal diagnosis
Online Access:http://www.cjcnn.org/index.php/cjcnn/article/view/334

Internet

http://www.cjcnn.org/index.php/cjcnn/article/view/334

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