The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
May. 10, 2016

Filed:

Jun. 24, 2013
Applicants:

The Hospital for Sick Children, Toronto, CA;

Mcgill University, Montreal, CA;

U.s. Department of Veterans Affairs, Washington, DC (US);

The Regents of the University of California, Oakland, CA (US);

Inventors:

Stephen W. Scherer, Toronto, CA;

Berge A. Minassian, Toronto, CA;

Antonio Delgado-Escueta, Malibu, CA (US);

Guy Rouleau, Montreal, CA;

Assignees:

The Hospital for Sick Children, Toronto, Ontario, CA;

McGill University, Montreal, Quebec, CA;

The Regents of the University of California, Oakland, CA (US);

U.S. Department of Veterans Affairs, Washington, DC (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
C12Q 1/68 (2006.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/172 (2013.01);
Abstract

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.


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