High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia

BACKGROUND: Machado-Joseph disease (MJD), caused by a CAG repeat expansion located in exon10 of the ATXN3 gene, is now regarded as one of the most common spinocerebellar ataxia (SCA) in the world. The relative frequency of MJD among SCA has previously been estimated at about 50% in the Chinese popul...

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Main Authors: Gan, Shi-Rui, Shi, Sheng-Sheng, Wu, Jian-Jun, Wang, Ning, Zhao, Gui-Xian, Weng, Sheng-Tong, Murong, Shen-Xing, Lu, Chuan-Zhen, Wu, Zhi-Ying
Format: Artigo
Language:Inglês
Published: BioMed Central 2010
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2861663/
https://ncbi.nlm.nih.gov/pubmed/20334689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-47
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