Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.
Gregersen
N
N
Molecular Genetic Laboratory, University Department of Clinical Chemistry, Aarhus Kommunehospital, Denmark.
Andresen
B S
BS
Bross
P
P
Winter
V
V
Rüdiger
N
N
Engst
S
S
Ghisla
S
S
Christensen
E
E
Kelly
D
D
Strauss
A W
AW
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D001483:Base Sequence; D015152:Blotting, Northern; D015153:Blotting, Western; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012333:RNA, Messenger / Q000032:analysis
D012333:RNA, Messenger; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase