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[Molecular basis of organic acidemia--propionic acidemia].

Human cell - 1 Dec 1990

Tahara T, Eto Y, Kraus J P, Rosenberg L E

Abstract excerpt

Propionic acidemia is an inborn error of organic acid metabolism caused by deficiency of propionyl-CoA carboxylase (PCC: E. C. 6. 4. 1. 3.). We have detected three types of mutation in the same exon of the coding sequence of beta-subunit of PCC (beta PCC) from two ethnic background (Caucasians and Japanese): an insertion/deletion which replaces 14 nucleotides with 12 unrelated nucleotides results in the...

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PMID: 2095843

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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.

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Molecular basis of organic acidemia--propionic acidemia].PMID 2095843Read ↗

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

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

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 ↗

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

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

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.Semantic proximity Read ↗

[Phenotypes and genotypes of 78 patients with propionic acidemia].Semantic proximity Read ↗

[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].Semantic proximity Read ↗

Combinations of exonic deletions and rare mutations lead to misdiagnosis of propionic acidemia.Semantic proximity Read ↗

Propionyl-CoA carboxylase - A review.Semantic proximity Read ↗

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