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Article

Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations.

Clinical biochemistry - 1 Sept 2014

Georgiou Theodoros, Nicolaidou Paola, Hadjichristou Anastasia, Ioannou Rodothea, Dionysiou Maria, Siama Elli, Chappa Georgia, Anastasiadou Violetta, Drousiotou Anthi

Abstract excerpt

OBJECTIVES: The purpose of this study was to identify the mutations in the glutaryl-CoA dehydrogenase gene (GCDH) in ten Cypriot patients with Glutaric aciduria type I (GAI). DESIGN AND METHODS: Molecular analysis of the GCDH gene was performed by direct sequencing of the patients' genomic DNA. In silico tools were applied to predict the effect of the novel variants on the structure and function of the protein....

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Source

Identifiers

PMID: 24973495
DOI: 10.1016/j.clinbiochem.2014.06.017

Genes

GCDH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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