Neonatal screening of a mutation (R254X) of SLC22A5 (OCTN2) in Primary Carnitine Deficiency
碩士 === 國立臺灣大學 === 分子醫學研究所 === 97 === Mutations in the SLC22A5 gene, which encodes the plasma membrane carnitine transporter OCTN2, cause primary carnitine deficiency (PCD). Currently, PCD is screened in newborns using free carnitine level as a marker. However, owing to the high free carnitine level...
| Main Authors: | , |
|---|---|
| Other Authors: | |
| Format: | Others |
| Language: | zh-TW |
| Published: |
2009
|
| Online Access: | http://ndltd.ncl.edu.tw/handle/51769581833685920921 |