<p>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.</p>
申请公布号
WO0005405(A3)
申请公布日期
2000.05.11
申请号
WO1999CA00646
申请日期
1999.07.20
申请人
SCHERER, STEPHEN, W.;MINASSIAN, BERGE, A.;DELGADO-ESCUETA, ANTONIO;ROULEAU, GUY
发明人
SCHERER, STEPHEN, W.;MINASSIAN, BERGE, A.;DELGADO-ESCUETA, ANTONIO;ROULEAU, GUY