DC Field | Value | Language |
dc.contributor.author | �d��� | zh-TW |
dc.creator | 吳瑞美 | zh_TW |
dc.date | 2005 | - |
dc.date.accessioned | 2006-07-26T04:24:22Z | - |
dc.date.accessioned | 2018-07-12T01:37:41Z | - |
dc.date.available | 2006-07-26T04:24:22Z | - |
dc.date.available | 2018-07-12T01:37:41Z | - |
dc.date.issued | 2005 | - |
dc.identifier | 932314B002241 | zh_TW |
dc.identifier.uri | http://ntur.lib.ntu.edu.tw//handle/246246/26098 | - |
dc.description.abstract | Recently, mutations in DJ-1 (PARK7) were described as a novel cause of earlyonset
parkinsonism. We have performed a comprehensive analysis of the DJ-1 gene in a
cohort of early-onset patients with Parkinson’s disease, originating from Taiwan; 41
subjects were clinically and genetically examined. These patients have previously been
evaluated for the presence of parkin mutations (PARK2) and found to be negative. The
entire DJ-1 open reading frame was amplified from cDNA and sequenced to identify
coding variants. In addition, we developed quantitative PCR assays to examine the
genomic copy number of DJ-1 exons. No sequence alterations or exon
deletion/duplications were detected. We conclude that in ethnic Chinese, Taiwanese
patients alterations to DJ-1 are not a common cause of disease. Given the low frequency
of parkin mutations in this early-onset cohort, our findings suggest other causes of
parkinsonism, genetic and/or environmental, remain to be identified. | en |
dc.format | application/pdf | en |
dc.format.extent | 82436 bytes | - |
dc.format.mimetype | application/pdf | - |
dc.language | zh-TW | zh_TW |
dc.language.iso | zh_TW | - |
dc.publisher | 臺北市:國立臺灣大學醫學院神經科 | zh_TW |
dc.rights | 國立臺灣大學醫學院神經科 | zh_TW |
dc.subject | PARK7 | en |
dc.subject | Parkinson’s disease | en |
dc.subject | genetics | en |
dc.subject | Taiwanese | en |
dc.title | 行政院國家科學委員會專題研究計畫期中進度報告:Parkin 基因多型性與巴金森氏病致病感受性的關聯性、以及DJ-1基因變異在巴金森氏病扮演之角色(1/2) | zh_TW |
dc.type | journal article | en |
dc.identifier.uri.fulltext | http://ntur.lib.ntu.edu.tw/bitstream/246246/26098/1/932314B002241.pdf | - |
dc.coverage | 計畫年度:93;起迄日期:2004-08-01/2005-07-31 | zh_TW |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.languageiso639-1 | zh_TW | - |
item.grantfulltext | open | - |
item.cerifentitytype | Publications | - |
item.fulltext | with fulltext | - |
Appears in Collections: | 醫學系
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