Abstract:
:Recent studies have shown that PLA2G6 is a causative gene for PARK14-linked autosomal recessive early-onset complicated dystonia-parkinsonism, early-onset parkinsonism with frontotemporal dementia and autosomal recessive early-onset Parkinsonism without added complicated clinical features. In order to investigate the characteristics of PLA2G6 gene mutations in Chinese sporadic early-onset parkinsonism (EOP) patients, we performed polymerase chain reaction and DNA direct sequencing on a cohort of sporadic EOP patients from Chinese population. In this study, we found a novel heterozygous varient (p.G679V). Bioinformatics demonstrates that p.G679V exhibits highly conserved residues across species, which hints it might be a pathogenic mutation. Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic EOP.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Tian JY,Tang BS,Shi CH,Lv ZY,Li K,Yu RL,Shen L,Yan XX,Guo JFdoi
10.1016/j.neulet.2012.02.078subject
Has Abstractpub_date
2012-04-18 00:00:00pages
156-8issue
2eissn
0304-3940issn
1872-7972pii
S0304-3940(12)00304-7journal_volume
514pub_type
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Neuroscience letters
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/0304-3940(94)90737-4
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2003-04-03 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2015.02.061
更新日期:2015-04-10 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2008.09.048
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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更新日期:2000-09-22 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2009.05.028
更新日期:2009-08-28 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
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更新日期:2001-03-09 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
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journal_title:Neuroscience letters
pub_type: 杂志文章
doi:10.1016/j.neulet.2009.07.072
更新日期:2009-09-29 00:00:00
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journal_title:Neuroscience letters
pub_type: 杂志文章
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更新日期:1980-08-01 00:00:00