C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07K 14/47 (2006.01) C12N 9/16 (2006.01) C12N 15/55 (2006.01)
Patent
CA 2338250
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.
L'invention concerne un nouveau gène (EPM2A) délété ou muté chez les sujets atteints de la maladie de Lafora. Ce gène EPM2A code pour une protéine qui présente un site catalytique actif d'une tyrosine phosphatase protéique, de nombreuses mutations de séquences, ainsi que plusieurs micro-délétions de EPM2A, présentant une coségrégation avec la maladie de Lafora.
Delgado-Escueta Antonio
Minassian Berge A.
Rouleau Guy
Scherer Stephen W.
Bereskin & Parr Llp/s.e.n.c.r.l.,s.r.l.
Delgado-Escueta Antonio
Minassian Berge A.
Rouleau Guy
Scherer Stephen W.
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