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Article

Two distinct mutations at the same site in the PCCB gene in propionic acidemia.

Genomics - 1 Oct 1990

Lamhonwah A M, Troxel C E, Schuster S, Gravel R A

Abstract excerpt

Propionic acidemia is an inborn error of metabolism resulting from a deficiency of propionyl-CoA carboxylase activity. The alpha- and beta-subunits of the enzyme are encoded by the PCCA and PCCB genes, respectively. Using direct sequencing and restriction digests of amplified reverse transcripts and genomic DNA, we have identified two mutations of the PCCB gene in a propionic acidemia patient from the pccC...

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Source

Identifiers

PMID: 2249848
DOI: 10.1016/0888-7543(90)90279-4

Genes

PCCB
PCCA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Two distinct mutations at the same site in the PCCB gene in propionic acidemia.PMID 2249848Read ↗

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

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.Semantic proximity Read ↗

Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia.Semantic proximity Read ↗

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients.Semantic proximity Read ↗

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.Semantic proximity Read ↗

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.Semantic proximity Read ↗

Mutation analysis in 54 propionic acidemia patients.Semantic proximity Read ↗

The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.Semantic proximity Read ↗

A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.Semantic proximity Read ↗

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.Semantic proximity Read ↗

New splicing mutations in propionic acidemia.Semantic proximity Read ↗

Structure of the PCCA gene and distribution of mutations causing propionic acidemia.Semantic proximity Read ↗

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