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Article

Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.

Journal of inherited metabolic disease - 1 Jan 2005

Baumgartner M R

Abstract excerpt

Most enzyme deficiencies in humans are inherited as autosomal recessive traits. The term dominant negative is applied to mutant alleles in which a mutant protein interferes in one way or another with the function of the normal protein being produced from the wild-type allele in a heterozygote. Su...

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Source

Identifiers

PMID: 15868465
DOI: 10.1007/s10545-005-7054-3

Genes

MCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15868465-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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