Article
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.
Lancet (London, England) - 31 Aug 1991
Matsubara Y, Narisawa K, Tada K, Ikeda H, Yao Y Q, Danks D M, Green A, McCabe E R
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder that has been associated with sudden infant death syndrome and a condition resembling Reye's syndrome. The point mutation K329E is thought to be the commonest mutation causing MCAD deficiency in caucasian pat...
Topics
- Acyl-CoA Dehydrogenases
- Alleles
- Australia
- Autoradiography
- Base Sequence
- DNA
- England
- Genetic Carrier Screening
- Humans
- Infant, Newborn
- Japan
- Molecular Sequence Data
- Mutation
- North America
- Polymerase Chain Reaction