Lafora's disease gene

Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives

Reexamination Certificate

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C536S024300

Reexamination Certificate

active

07550571

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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Serratosa, J. et al., (A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)), Human Molecular Genetics, vol. 8, No. 2, Feb. 1999, pp. 345-352.
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GenBank Accession AJ130763, GI 3980308, Dec. 16, 1998.

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