Article
Characterization of a mutation that abolishes quinone reduction by electron transfer flavoprotein-ubiquinone oxidoreductase.
Human molecular genetics - 1 Feb 1995
Beard S E, Goodman S I, Bemelen K, Frerman F E
Abstract excerpt
Two mutant alleles of the gene encoding electron transfer flavoprotein-ubiquinone oxidoreductase were identified and characterized in fibroblasts from a patient with glutaric acidemia type II. One of these alleles is a C-T transition in the donor site of an intron that causes skipping of a 222 bp...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Benzoquinones
- Cysteine
- Electron-Transferring Flavoproteins
- Fatty Acid Desaturases
- Gene Expression Regulation
- Glutarates
- Humans
- Iron-Sulfur Proteins
- Molecular Sequence Data
- Multienzyme Complexes
- Mutation
- Oxidation-Reduction
- Oxidoreductases Acting on CH-NH Group Donors
- Saccharomyces cerevisiae