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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Hlavní autoři: Qureshi, A A, Crane, A M, Matiaszuk, N V, Rezvani, I, Ledley, F D, Rosenblatt, D S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC294249/
https://ncbi.nlm.nih.gov/pubmed/7909321
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