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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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2010
Θέματα:
Διαθέσιμο Online: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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