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Article

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

Human genetics - 1 Oct 1993

Ohura T, Ogasawara M, Ikeda H, Narisawa K, Tada K

Abstract excerpt

Propionic acidemia is an autosomal recessive metabolic disease resulting from a deficiency of propionyl CoA carboxylase (PCC) activity. To investigate the genetic basis of propionic acidemia, we isolated a cDNA encoding the precursor of the beta subunit of human PCC (beta PCC). The cloned cDNA sequence was 1,832 bp long and the open reading frame of 1,617 nucleotides encoded a polypeptide of 539 amino acids with...

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Identifiers

PMID: 8225321
DOI: 10.1007/BF01247343

Genes

PCCB

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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→

Click a neighbor to travelStep 1 · 12 closest

The molecular defect in propionic acidemia: exon skipping caused by an 8-bp deletion from an intron in the PCCB allele.PMID 8225321Read ↗

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

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

[Molecular basis of organic acidemia--propionic acidemia].Semantic proximity Read ↗

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

New splicing mutations in propionic acidemia.Semantic proximity Read ↗

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.Semantic proximity Read ↗

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

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

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

A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.Semantic proximity Read ↗

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

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