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Article

Mutations participating in interallelic complementation in propionic acidemia.

American journal of human genetics - 1 Jul 1994

Gravel R A, Akerman B R, Lamhonwah A M, Loyer M, Léon-del-Rio A, Italiano I

Abstract excerpt

Deficiency of propionyl-CoA carboxylase (PCC; alpha 4 beta 4) results in the rare, autosomal recessive disease propionic acidemia. Cell fusion experiments have revealed two complementation groups, pccA and pccB, corresponding to defects of the PCCA (alpha-subunit) and PCCB (beta-subunit) genes, respectively. The pccBCC group includes subgroups, pccB and pccC, which are thought to reflect interallelic...

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Identifiers

PMID: 8023851
PMCID: PMC1918217

Genes

PCCB
PCCA

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Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Mutations participating in interallelic complementation in propionic acidemia.PMID 8023851Read ↗

Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.Semantic proximity Read ↗

Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.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 ↗

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

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.Semantic proximity Read ↗

Functional characterization of PCCA mutations causing propionic acidemia.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: identification of twenty-four novel mutations in Europe and North America.Semantic proximity Read ↗

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