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Article

[Gene mutation analysis in patients with propionic acidemia].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2008

Hu Yu-hui, Han Lian-shu, Ye Jun, Qiu Wen-juan, Zhang Ya-fen, Yang Yan-ling, Liu Li, Ma Hong-wei, Gao Xiao-lan, Gu Xue-fan

Abstract excerpt

OBJECTIVE: Propionic acidemia is a common organic acidemia, caused by deficiency of propionyl-CoA carboxylase (PCC), which catalyzes the carboxylation of propionyl-CoA to D-methylmalonyl-CoA. PCC is a dodecameric enzyme of alpha-PCC and beta-PCC subunits, nuclearly encoded by genes PCCA and PCCB, respectively. Mutation in either gene cause propionic acidemia, the PCCA gene is located on chromosome 13q32 with 24...

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Source

Identifiers

PMID: 19099776

Genes

PCCA
PCCB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[Gene mutation analysis in patients with propionic acidemia].PMID 19099776Read ↗

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Case reports: three novel variants in PCCA and PCCB genes in Chinese patients with propionic acidemia.Semantic proximity Read ↗

[Molecular basis of organic acidemia--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 ↗

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.Semantic proximity Read ↗

[Phenotypes and genotypes of 78 patients with propionic acidemia].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: identification of twenty-four novel mutations in Europe and North America.Semantic proximity Read ↗

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Evaluation of the Clinical, Biochemical, Genotype, and Prognosis of Propionic Acidemia in 133 Patients from ChinaSemantic proximity Read ↗

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