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Inherited Methylmalonyl CoA Mutase Apoenzyme Deficiency in Human Fibroblasts: EVIDENCE FOR ALLELIC HETEROGENEITY, GENETIC COMPOUNDS, AND CODOMINANT EXPRESSION

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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Detalhes bibliográficos
Main Authors: Willard, Huntington F., Rosenberg, Leon E.
Formato: Artigo
Idioma:Inglês
Publicado em: 1980
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC371411/
https://ncbi.nlm.nih.gov/pubmed/6101601
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