Article
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
American journal of human genetics - 1 Aug 1991
Fisher C R, Fisher C W, Chuang D T, Cox R P
Abstract excerpt
Maple syrup urine disease (MSUD) is caused by a deficiency in the mitochondrial branched-chain alpha-keto acid dehydrogenase complex. The incidence of MSUD in the Philadelphia Mennonites is 1/176 births resulting from consanguinity. In this study, we amplified cDNAs for the decarboxylase E1 alpha...
Topics
- 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
- Alleles
- Asparagine
- Base Sequence
- Blotting, Southern
- DNA
- Ethnicity
- Genes
- Humans
- Ketone Oxidoreductases
- Maple Syrup Urine Disease
- Molecular Sequence Data
- Multienzyme Complexes
- Mutation
- Oligonucleotide Probes