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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...

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Bibliografski detalji
Izdano u:J Clin Invest
Glavni autori: Willard, Huntington F., Rosenberg, Leon E.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 1980
Teme:
Online pristup: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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