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Article

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

The Journal of clinical investigation - 1 Apr 1994

Qureshi A A, Crane A M, Matiaszuk N V, Rezvani I, Ledley F D, Rosenblatt D S

Abstract excerpt

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 ce...

Topics

Base Sequence
Cells, Cultured
Cloning, Molecular
Female
Genetic Complementation Test
Humans
Male
Methylmalonic Acid
Methylmalonyl-CoA Mutase
Molecular Sequence Data
Mutation
Propionates

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Identifiers

PMID: 7909321
DOI: 10.1172/JCI117166
PMCID: PMC294249

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7909321-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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