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To identify, validate and characterize the gene on 18p which is responsible for causing Myoclonus-Dystonia (MD)

To identify, validate and characterize the gene on 18p which is responsible for causing Myoclonus-Dystonia (MD)
识别、验证和表征 18p 上导致肌阵挛-肌张力障碍 (MD) 的基因
批准号：
199995
负责人：
Vanstone Megan R
金额：
$1.27万
依托单位：
University of Ottawa
依托单位国家：
加拿大
项目类别：
Studentship Programs
财政年份：
2010
资助国家：
加拿大
项目状态：
已结题
起止时间：
2010-02-01 至 2011-02-01
来源：
https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=199995&lang=en
关键词：
Animal Model Genetic Disorders Genetics Mutation Identification Mutation Screening Myoclonus-Dystonia Nervous System Next-Generation Sequencing Sequence Capture Microarray Sequencing Critical Region Of Gene

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英文摘要
Two genes have been associated with Myoclonus-Dystonia (MD), a locus on 18p11 (DYT15) and the SGCE gene (DYT11) on chromosome 7. One of the goals of the current proposal is to identify within the DYT15 locus, a novel gene causing MD. 36 families have be
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