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Article

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

Human genetics - 1 Jun 1995

Ohura T, Narisawa K, Tada K, Iinuma K

Abstract excerpt

Propionic acidemia is an inborn error of organic acid metabolism caused by a deficiency of propionyl Coenzyme A (CoA) carboxylase. cDNAs sequenced from a beta subunit deficient Japanese patient (no. 187) showed an in-frame 57-bp deletion in one allele. Genomic DNA analysis revealed a four-nucleotide deletion of bases 3 to 6 in the 3' intron adjacent to the deleted exon, which disrupted the consensus 5' splice...

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Source

Identifiers

PMID: 7789958
DOI: 10.1007/BF00209492

Genes

PCCB

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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A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.PMID 7789958Read ↗

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

New splicing mutations in propionic acidemia.Semantic proximity Read ↗

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

Two distinct mutations at the same site in the PCCB gene in propionic acidemia.Semantic proximity Read ↗

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

Novel Heterozygous PCCA Mutations with Fatal Outcome in 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 ↗

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.Semantic proximity Read ↗

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

[Gene mutation analysis in patients with propionic acidemia].Semantic proximity Read ↗

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

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report.Semantic proximity Read ↗

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