Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia.

Methylmalonyl-CoA mutase (EC 5.4.99.2) is a mitochondrial matrix enzyme whose activity is deficient in the inherited disorder methylmalonic acidemia. Previous studies on primary fibroblast cell lines from patients with methylmalonic acidemia have delineated a variety of biochemical phenotypes underl...

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Bibliographische Detailangaben
Hauptverfasser: Ledley, F D, Jansen, R, Nham, S U, Fenton, W A, Rosenberg, L E
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1990
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC53851/
https://ncbi.nlm.nih.gov/pubmed/1970180
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