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
• 起止时间: 2010-02-01 至 2011-02-01
• 项目状态: 已结题
• 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

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

两个基因与Myoclonus-dystonia（MD），18P11（Dyt15）的基因座和染色体上的SGCE基因（DYT11）有关。当前建议的目标之一是在Dyt15基因座中识别，这是一个新的基因，导致MD。 36个家庭是