Systemic carnitine deficiency gene and uses thereof

Details Systemic carnitine deficiency gene and uses thereof Systemic carnitine deficiency gene and uses thereof

2004-09-13

2008-08-19

Kam, Chih-Min (Department: 1656)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S007100, C536S023500, C530S350000, C530S387200

Reexamination Certificate

active

07413860

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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