Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import.

Methylmalonyl-CoA mutase (2-methylmalonyl-CoA CoA-carbonylmutase, EC 5.4.99.2) is a mitochondrial enzyme whose deficiency in man leads to several biochemically and clinically heterogenous++ forms of methylmalonic acidemia. Intact fibroblasts from 21 patients with mutase apoenzyme deficiency have bee...

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Main Authors: Fenton, W A, Hack, A M, Kraus, J P, Rosenberg, L E
Format: Artigo
Jezik:Inglês
Izdano: 1987
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC304442/
https://ncbi.nlm.nih.gov/pubmed/2881300
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