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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Bibliographische Detailangaben
Hauptverfasser: Qureshi, A A, Crane, A M, Matiaszuk, N V, Rezvani, I, Ledley, F D, Rosenblatt, D S
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1994
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC294249/
https://ncbi.nlm.nih.gov/pubmed/7909321
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