| 发明名称 |
Lafora's disease gene |
| 摘要 |
A novel gene (EPMZA) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EMP2A have been found that co-segregate with Lafora's disease. |
| 申请公布号 |
US2010009346(A1) |
申请公布日期 |
2010.01.14 |
| 申请号 |
US20070979262 |
申请日期 |
2007.10.31 |
| 申请人 |
THE HOSPITAL FOR SICK CHILDREN;THE REGENTS OF THE UNIVERSITY OF CALIFORNIA;U.S. GOVERNMENT DEPARTMENT OF VETERAN AFFAIRS;MCGILL UNIVERSITY |
发明人 |
SCHERER STEPHEN W.;MINASSIAN BERGE A.;DELGADO-ESCUETA ANTONIO;ROULEU GUY |
| 分类号 |
C12Q1/68;C07H21/04;C12N9/16;C12P21/04 |
主分类号 |
C12Q1/68 |
| 代理机构 |
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