Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.
Andresen
B S
BS
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Denmark.
Bross
P
P
Knudsen
I
I
Winter
V
V
Kølvraa
S
S
Bolund
L
L
Gregersen
N
N
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000096:biosynthesis / Q000172:deficiency* / Q000235:genetics*; D000483:Alleles; D015139:Blotting, Southern; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000378:metabolism*; D015183:Restriction Mapping
D012333:RNA, Messenger; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase