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Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II
OBJECTIVE: Muscle carnitine palmitoyltransferase (CPT) II deficiency, the most common defect of lipid metabolism in muscle, is characterized by attacks of myoglobinuria without persistent muscle weakness. METHODS: His(6)-N-hCPT2 (wild-type) and His(6)-N-hCPT2/S113L (variant) were produced recombinan...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Neurol Genet |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Wolters Kluwer
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4830186/ https://ncbi.nlm.nih.gov/pubmed/27123472 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000053 |
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