Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.

doi:10.1074/jbc.272.42.26425

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Article

Expression and characterization of two pathogenic mutations in human electron transfer flavoprotein.

The Journal of biological chemistry - 17 Oct 1997

Salazar D, Zhang L, deGala G D, Frerman F E

Abstract excerpt

Defects in electron transfer flavoprotein (ETF) or its electron acceptor, electron transfer flavoprotein-ubiquinone oxidoreductase (ETF-QO), cause the human inherited metabolic disease glutaric acidemia type II. In this disease, electron transfer from nine primary flavoprotein dehydrogenases to t...

Topics

Cloning, Molecular
Electron-Transferring Flavoproteins
Flavins
Flavoproteins
Humans
Mutagenesis, Site-Directed
Mutation
Oxidation-Reduction
Protein Binding

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