Prevalence of the 985A > G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden

Authors
Johansson, A Guthenberg, C Ahlman, H Von Dobeln, U Hagenfeldt, L
Citation
A. Johansson et al., Prevalence of the 985A > G mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Sweden, SC J CL INV, 59(4), 1999, pp. 289-291
Citations number
11
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Medical Research General Topics
Journal title
SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION
ISSN journal
00365513 → ACNP
Volume
59
Issue
4
Year of publication
1999
Pages
289 - 291
Database
ISI
SICI code
0036-5513(199907)59:4<289:POT9>G>2.0.ZU;2-3
Abstract
The prevalence of the 985A>G mutation in the medium-chain acyl-CoA dehydrog enase gene was determined in the Swedish population. A heterozygote frequen cy of 1:127 was observed. Morbidity data indicate that most of the homozygo tes with this mutation are not diagnosed and probably remain asymptomatic.