Molecular heterogeneity for bovine maple syrup urine disease.

doi:10.1111/j.1365-2052.1994.tb00366.x

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Article

Molecular heterogeneity for bovine maple syrup urine disease.

Animal genetics - 1 Oct 1994

Healy P J, Dennis J A

Abstract excerpt

In Poll Herefords, it is known that maple syrup urine disease results from a nonsense mutation in codon -6 of the gene for the E1 alpha subunit of branched-chain alpha-keto acid dehydrogenase. The disease also occurs in Poll Shorthorns, but its molecular basis in this breed has not yet been deter...

Topics

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
Alleles
Animals
Base Sequence
Cattle
Cattle Diseases
Consensus Sequence
DNA
DNA Primers
Genetic Carrier Screening
Introns
Ketone Oxidoreductases
Macromolecular Substances
Maple Syrup Urine Disease
Molecular Sequence Data
Multienzyme Complexes
Nucleic Acid Hybridization
Point Mutation

Source

Open in PubMed

Identifiers

PMID: 7818167
DOI: 10.1111/j.1365-2052.1994.tb00366.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7818167-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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