Article
Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II.
Human molecular genetics - 1 Mar 1994
Colombo I, Finocchiaro G, Garavaglia B, Garbuglio N, Yamaguchi S, Frerman F E, Berra B, DiDonato S
Abstract excerpt
Electron transfer flavoprotein (ETF) is a heterodimeric enzyme composed of an alpha-subunit and a beta-subunit and contains a single equivalent of FAD per dimer. ETF deficiency can be demonstrated in individuals affected by a severe metabolic disorder, glutaric acidemia type II (GAII). In this st...
Topics
- Amino Acid Metabolism, Inborn Errors
- Base Sequence
- Blotting, Western
- Cells, Cultured
- DNA
- DNA-Cytosine Methylases
- Deoxyribonucleases, Type II Site-Specific
- Electron-Transferring Flavoproteins
- Fibroblasts
- Flavoproteins