Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

The mut0 mutation resulting in methylmalonyl CoA mutase (MCM) apoenzyme deficiency and methylmalonic aciduria is characterized by undetectable enzyme activity in cell extracts and low incorporation of propionate into cultured cells which is not stimulated by hydroxycobalamin. A mut0 fibroblast cell...

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Detalhes bibliográficos

Publicado no:	J Clin Invest
Principais autores:	Qureshi, A A, Crane, A M, Matiaszuk, N V, Rezvani, I, Ledley, F D, Rosenblatt, D S
Formato:	Artigo
Idioma:	Inglês
Publicado em:	American Society for Clinical Investigation 1994
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294249/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7909321/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117166
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