title: Prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden.
abstract: 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.
authors.affiliation: Centre for Inherited Metabolic Diseases, Huddinge University Hospital, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Johansson
authors.forename: C
authors.initials: C
authors.lastname: Guthenberg
authors.forename: H
authors.initials: H
authors.lastname: Ahlman
authors.forename: U
authors.initials: U
authors.lastname: Von Döbeln
authors.forename: L
authors.initials: L
authors.lastname: Hagenfeldt
mesh_terms: 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
chemical_list: D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase