An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

doi:10.1073/pnas.87.4.1372

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Article

An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

Proceedings of the National Academy of Sciences of the United States of America - 1 Feb 1990

Tahara T, Kraus J P, Rosenberg L E

Abstract excerpt

Propionic acidemia is an inherited disorder of organic acid metabolism that is caused by deficiency of propionyl-CoA carboxylase (PCC; EC 6.4.1.3). Affected patients fall into two complementation groups, pccA and pccBC (subgroups B, C, and BC), resulting from deficiency of the nonidentical alpha and beta subunits of PCC, respectively. We have detected an unusual insertion/deletion in the DNA of patients from the...

Topics

Alleles
Base Sequence
Blotting, Southern
Carbon-Carbon Ligases
Cells, Cultured
Chromosome Deletion
DNA
DNA Transposable Elements
Exons
Genes
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Introns

Ligases

Macromolecular Substances

Metabolism, Inborn Errors

Molecular Sequence Data

Mutation

Nucleic Acid Hybridization

Source

Open in PubMed Open full text

Identifiers

PMID: 2154743
DOI: 10.1073/pnas.87.4.1372
PMCID: PMC53477

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2154743-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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