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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2010
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Research Article
On-line přístup: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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