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Mol Genet Metab. 2002 Sep-Oct;77(1-2):86-90.

Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene.

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1
Department of Pediatrics, University of Colorado Health Sciences Center, Box C233, 4200 East Ninth Avenue, Denver, CO 80262, USA. stephen.goodman@uchsc.edu

Abstract

Glutaric acidemia type II is a human inborn error of metabolism which can be due to defects in either subunit of electron transfer flavoprotein (ETF) or in ETF:ubiquinone oxidoreductase (ETF:QO), but few disease-causing mutations have been described. The ETF:QO gene is located on 4q33, and contains 13 exons. Primers to amplify these exons are presented, together with mutations identified by molecular analysis of 20 ETF:QO-deficient patients. Twenty-one different disease-causing mutations were identified on 36 of the 40 chromosomes.

PMID:
12359134
[Indexed for MEDLINE]
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