Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
The molecular basis of dihydrolipoamide dehydrogenase (E3; dihydrolipoamide:NAD+ oxidoreductase, EC 1.8.1.4) deficiency in an E3-deficient patient was studied. Fibroblasts cultured from the patient contained only approximately 6% of the E3 activity of cells from a normal subject. Western and Norther...
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| Pubblicato in: | Proc Natl Acad Sci U S A |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
National Academy of Sciences
1993
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC46680/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8506365/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.90.11.5186 |
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