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Article

Structure of the human methylmalonyl-CoA mutase (MUT) locus.

Genomics - 1 Dec 1990

Nham S U, Wilkemeyer M F, Ledley F D

Abstract excerpt

The MUT locus encoding the enzyme methylmalonyl-CoA mutase is defective in mut forms of methylmalonic acidemia. This locus has been mapped to chromosome 6p12-21.1. We report cloning and characterization of this locus which comprises 13 exons spanning greater than 35 kb of the genome. The MUT locus exhibits consensus sequences for transcription, splicing, and polyadenylation. The putative promoter region was...

Topics

Base Sequence
Cloning, Molecular
Consensus Sequence
Exons
Humans
Introns
Methylmalonyl-CoA Mutase
Molecular Sequence Data
Mutation
Poly A
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Promoter Regions, Genetic

RNA Splicing

Restriction Mapping

Transcription, Genetic

Source

Identifiers

PMID: 1980486
DOI: 10.1016/0888-7543(90)90259-w

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1980486-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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