Two Novel SNPs in ATXN3 3’ UTR May Decrease Age at Onset of SCA3/MJD in Chinese Patients

Spinocerebellar ataxia type 3 (SCA3), or Machado—Joseph disease (MJD), is an autosomal dominantly-inherited disease that produces progressive problems with movement. It is caused by the expansion of an area of CAG repeats in a coding region of ATXN3. The number of repeats is inversely associated wit...

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Veröffentlicht in:PLoS One
Hauptverfasser: Long, Zhe, Chen, Zhao, Wang, Chunrong, Huang, Fengzhen, Peng, Huirong, Hou, Xuan, Ding, Dongxue, Ye, Wei, Wang, Junling, Pan, Qian, Li, Jiada, Xia, Kun, Tang, Beisha, Ashizawa, Tetsuo, Jiang, Hong
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2015
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4331546/
https://ncbi.nlm.nih.gov/pubmed/25689313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0117488
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