Inherited Methylmalonyl CoA Mutase Apoenzyme Deficiency in Human Fibroblasts
We have measured and characterized methylmalonyl coenzyme A (CoA) mutase activity in extracts of cultured human fibroblasts from 23 patients with inherited deficiency of the mutase apoenzyme and from eight obligate heterozygotes for this defect. The mutant cell lines fall into two categories. Those...
Gespeichert in:
| Veröffentlicht in: | J Clin Invest |
|---|---|
| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
American Society for Clinical Investigation
1980
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| Schlagworte: | |
| Online-Zugang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC371411/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6101601/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI109715 |
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