Article
Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
American journal of human genetics - 1 Jan 1992
Ding J H, Yang B Z, Bao Y, Roe C R, Chen Y T
Abstract excerpt
A mutation involving an A-to-G nucleotide replacement at position 985 of the medium-chain acyl-CoA dehydrogenase (MCAD) cDNA was found in homozygous form in 18 unrelated MCAD-deficient families and in heterozygous form in 4 families. By PCR amplification and sequencing of cDNA from a compound het...
Topics
- Acyl-CoA Dehydrogenases
- Alleles
- Base Sequence
- Cloning, Molecular
- DNA
- Heterozygote
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction