| 发明名称 | Lafora's disease gene | ||
| 摘要 | A novel gene (EPM2A) 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 EPM2A have been found that co-segregate with Lafora's disease. | ||
| 申请公布号 | US9334539(B2) | 申请公布日期 | 2016.05.10 |
| 申请号 | US201313925443 | 申请日期 | 2013.06.24 |
| 申请人 | The Hospital for Sick Children;McGill University;The Regents of the University of California;U.S. Department of Veterans Affairs | 发明人 | Scherer Stephen W.;Minassian Berge A.;Delgado-Escueta Antonio;Rouleau Guy |
| 分类号 | C12Q1/68 | 主分类号 | C12Q1/68 |
| 代理机构 | Foley & Lardner LLP | 代理人 | Foley & Lardner LLP |
| 主权项 | 1. A method of detecting a mutation in an EPM2A gene, comprising: (a) direct sequencing a nucleic acid molecule that has at least 90% identity to SEQ ID NO:5 over the full length of SEQ ID NO:5; and (b) detecting the presence of a T at a position corresponding to position 273 of SEQ ID NO:5; an A at a position corresponding to position 387 of SEQ ID NO:5; a T at a position corresponding to position 430 of SEQ ID NO:5; or an insertion of nucleotide A at a position corresponding to position 352 of SEQ ID NO:5. | ||
| 地址 | Toronto, Ontario CA | ||