Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
- 31 August 1991
- journal article
- Published by Elsevier in The Lancet
- Vol. 338 (8766) , 552-553
- https://doi.org/10.1016/0140-6736(91)91110-g
Abstract
No abstract availableKeywords
Funding Information
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 8 references indexed in Scilit:
- Frequency of the G985 MCAD mutation in the general populationThe Lancet, 1991
- Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.Proceedings of the National Academy of Sciences, 1990
- Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.Journal of Clinical Investigation, 1990
- Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyBiochemical and Biophysical Research Communications, 1990
- Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiencyThe Lancet, 1990
- Molecular genetic diagnosis of sickle cell disease using dried blood specimens on blotters used for newborn screeningHuman Genetics, 1989
- Medium-Chain Acyl-CoA Dehydrogenase DeficiencyNew England Journal of Medicine, 1988
- [21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reactionPublished by Elsevier ,1987