Lafora's disease gene

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United States of America Patent

PATENT NO 9334539
APP PUB NO 20140057971A1
SERIAL NO

13925443

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Abstract

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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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Patent Owner(s)

Patent OwnerAddress
THE HOSPITAL FOR SICK CHILDREN555 UNIVERSITY AVENUE TORONTO ONTARIO M5G 1X8

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Inventor(s)

Inventor Name Address # of filed Patents Total Citations
Delgado-Escueta, Antonio Malibu, US 5 21
Minassian, Berge A Toronto, CA 24 56
Rouleau, Guy Montreal, CA 5 15
Scherer, Stephen W Toronto, CA 17 73

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