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ISOLATION OF THE BALTIC PROGRESSIVE MYOCLONUS EPILEPSY GENE (EPMI)

ISOLATION OF THE BALTIC PROGRESSIVE MYOCLONUS EPILEPSY GENE (EPMI)
波罗的海进行性肌阵挛癫痫基因 (EPMI) 的分离
批准号：
6244660
负责人：
Margit Burmeister
金额：
$2.22万
依托单位：
UNIVERSITY OF MICHIGAN AT ANN ARBOR
依托单位国家：
美国
项目类别：
财政年份：
1997
资助国家：
美国
项目状态：
已结题
起止时间：
1997-02-20 至 1997-11-30
来源：
https://reporter.nih.gov/project-details/6244660
关键词：
gene mutation genetic disorder human genetic material tag myoclonus epilepsy

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中文摘要
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英文摘要
This project was designed to identify the gene for Unverricht Lundborg (Baltic) progressive myoclonus epilepsy. Identification of this gene was thought to shed light on the origin of epilepsies and myoclonus, and to potentially help families in their reproductive decisions. Since the identification of the gene in March 1996, we are seeking patients with this disorder for mutation analysis. This is outside of the GCRC, however, since the immortalization service has been terminated. I would like to stress that we are still seeking patients with this disorder for genetic studies.
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