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Article

Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.

Human genetics - 1 May 1992

Crane A M, Martin L S, Valle D, Ledley F D

Abstract excerpt

We have previously identified a mutation in the gene for methylmalonyl CoA mutase in a patient with the mut- phenotype of methylmalonic aciduria. This mutation (G717V) interferes with the binding of the deoxyadenosylcobalamin cofactor to the apoenzyme producing a mutant holoenzyme that is defective, but not completely inactive, in vitro. This report describes the clinical phenotype associated with this mutation...

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Identifiers

PMID: 1351030
DOI: 10.1007/BF00220536

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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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Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase.PMID 1351030Read ↗

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