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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 cell line (WG1681) from an African-American male infant complemented another mut0 cell line (WG 1130). Cloning and...

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Identifiers

PMID: 7909321
DOI: 10.1172/JCI117166
PMCID: PMC294249

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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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