Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II, and identification of glycine substitution for valine 157, producing an unstable mature protein in a patient.
Indo
Y
Y
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Glassberg
R
R
Yokota
I
I
Tanaka
K
K
D015152:Blotting, Northern; D044927:Electron-Transferring Flavoproteins; D005420:Flavoproteins / Q000737:chemistry / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D005977:Glutarates / Q000097:blood*; D005998:Glycine / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics*; D010446:Peptide Fragments / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics; D014633:Valine / Q000235:genetics*
D044927:Electron-Transferring Flavoproteins; D005420:Flavoproteins; D005977:Glutarates; D010446:Peptide Fragments; D012333:RNA, Messenger; C035736:glutaric acid; D014633:Valine; D005998:Glycine