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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 exon. Included in the missing 74 amino acids is C561, which is predicted to be one of the four cysteine ligands of the...

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PMID: 7757062
DOI: 10.1093/hmg/4.2.157

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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