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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...

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Detalles Bibliográficos
Autores principales:	Motlagh, Leila, Golbik, Ralph, Sippl, Wolfgang, Zierz, Stephan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2016
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830186/ https://www.ncbi.nlm.nih.gov/pubmed/27123472 http://dx.doi.org/10.1212/NXG.0000000000000053

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