Article
Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.
American journal of human genetics - 1 Jun 1993
Zhang Z, Kolvraa S, Zhou Y, Kelly D P, Gregersen N, Strauss A W
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a common inborn error of fatty-acid oxidation and may cause sudden infant death. Previous studies revealed that (i) homozygosity for an A-to-G mutation at nucleotide 985 of the mRNA coding region (A985G) is an extremely common cause of MCAD...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Base Sequence
- Cells, Cultured
- Child
- DNA
- Deoxyribonuclease BamHI
- Deoxyribonucleases, Type II Site-Specific
- Exons
- Haplotypes
- Humans
- Introns
- Lipid Metabolism, Inborn Errors
- Molecular Sequence Data
- Mutation