Prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden.
The prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrogenase gene was determined in the Swedish population. A heterozygote frequency of 1:127 was observed. Morbidity data indicate that most of the homozygotes with this mutation are not diagnosed and probably remain asymptomatic.
Johansson
A
A
Centre for Inherited Metabolic Diseases, Huddinge University Hospital, Sweden.
Guthenberg
C
C
Ahlman
H
H
Von Döbeln
U
U
Hagenfeldt
L
L
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D000483:Alleles; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D013548:Sweden
D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase