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On the Molecular Basis of D-Bifunctional Protein Deficiency Type III
Molecular basis of D-bifunctional protein (D-BP) deficiency was studied with wild type and five disease-causing variants of 3R-hydroxyacyl-CoA dehydrogenase fragment of the human MFE-2 (multifunctional enzyme type 2) protein. Complementation analysis in vivo in yeast and in vitro enzyme kinetic and...
Autores principales: | Mehtälä, Maija L., Lensink, Marc F., Pietikäinen, Laura P., Hiltunen, J. Kalervo, Glumoff, Tuomo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538638/ https://www.ncbi.nlm.nih.gov/pubmed/23308274 http://dx.doi.org/10.1371/journal.pone.0053688 |
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