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Article

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.

The Journal of clinical investigation - 1 Feb 1992

Crane A M, Jansen R, Andrews E R, Ledley F D

Abstract excerpt

Distinct genotypic and phenotypic forms of methylmalonyl CoA mutase (MCM) apoenzyme deficiency can be delineated by biochemical analysis of mutant fibroblasts. One form, designated mut-, expresses a phenotype in which residual enzyme activity is evident in cultured cells exposed to high concentrations of hydroxycobalamin. We describe cloning of an MCM cDNA from cells exhibiting a mut- phenotype and...

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Identifiers

PMID: 1346616
DOI: 10.1172/JCI115597
PMCID: PMC442864

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.PMID 1346616Read ↗

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Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation.Semantic proximity Read ↗

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Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐ <scp>C</scp> o <scp>A</scp> Mutase ( <scp>MUT</scp> ) DeficiencySemantic proximity Read ↗

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.Semantic proximity Read ↗

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