| 摘要 |
<p>It is clarified that OCTN2 gene participating in the organic cation transportation is a gene causative of systemic carnitine deficiency. It is also found that systemic carnitine deficiency can be examined by detecting whether or not this gene has mutation. It is furthermore found that patients with systemic carnitine deficiency can be treated by using normal OCTN2 gene, its protein, etc.</p> |
