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Article

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.

Clinica chimica acta; international journal of clinical chemistry - 6 Sept 2010

Lianou Dimitra, Gallego Lorena, Michelakakis Helen, Pérez-Cerdá Celia, Pérez Belén, Ginis Stavroula, Jakobs Cornelis, Ugarte Magdalena, Desviat Lourdes R

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20493181
DOI: 10.1016/j.cca.2010.05.022

Genes

PCCA

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Related research

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Research trail→

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Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.PMID 20493181Read ↗

Novel Heterozygous PCCA Mutations with Fatal Outcome in Propionic Acidemia.Semantic proximity Read ↗

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients.Semantic proximity Read ↗

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

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

Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.Semantic proximity Read ↗

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

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.Semantic proximity Read ↗

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.Semantic proximity Read ↗

Mutation analysis in 54 propionic acidemia patients.Semantic proximity Read ↗

New splicing mutations in propionic acidemia.Semantic proximity Read ↗

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