LaFORA'S DISEASE GENE
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United States of America Patent
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Issued Date -
Jul 28, 2016
app pub date -
Apr 7, 2016
filing date -
Jul 20, 1998
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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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