Is a
Patent attributes
Patent Jurisdiction
Patent Number
Date of Patent
August 19, 2008
Patent Application Number
10940500
Date Filed
September 13, 2004
Patent Primary Examiner
Patent abstract
The gene responsible for systemic carnitine deficiency was found to be the OCTN2 gene involved in the transportation of organic cations. This invention enables tests for this disease by detecting whether or not the OCTN2 gene has a mutation. Furthermore, systemic carnitine deficiency can be treated using the normal OCTN2 gene and its protein.
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