Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

Distinct genotypic and phenotypic forms of methylmalonyl CoA mutase (MCM) apoenzyme deficiency can be delineated by biochemical analysis of mutant fibroblasts. One form, designated mut-, expresses a phenotype in which residual enzyme activity is evident in cultured cells exposed to high concentratio...

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Bibliografiske detaljer

Udgivet i:	J Clin Invest
Principais autores:	Crane, A M, Jansen, R, Andrews, E R, Ledley, F D
Format:	Artigo
Sprog:	Inglês
Udgivet:	American Society for Clinical Investigation 1992
Fag:	Research Article
Online adgang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC442864/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1346616/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115597
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