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Article

Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.

BioEssays : news and reviews in molecular, cellular and developmental biology - 1 Jul 1990

Ledley F D

Abstract excerpt

Methylmalonyl CoA mutase deficiency (methylmalonic acidemia) has been a paradigm for biochemical and somatic cell genetic approaches to human disease. Recently, genes encoding this enzyme have been cloned from several species. These studies have provided information about the primary structure and evolution of this enzyme, the mutations which underlie its deficiency state, and the structure-function determinants...

Topics

Amino Acid Metabolism, Inborn Errors
Chromosome Mapping
Chromosomes, Human, Pair 6
Cloning, Molecular
Genetic Therapy
Humans
Isomerases
Methylmalonyl-CoA Mutase
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1975493
DOI: 10.1002/bies.950120706

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1975493-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Perspectives on methylmalonic acidemia resulting from molecular cloning of methylmalonyl CoA mutase.PMID 1975493Read ↗

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