Article
Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts.
The Journal of clinical investigation - 1 Apr 1990
Matsubara Y, Ito M, Glassberg R, Satyabhama S, Ikeda Y, Tanaka K
Abstract excerpt
Isovaleric acidemia (IVA) is caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). At least five distinct variant IVD alleles are known. We isolated five overlapping IVD cDNA clones from a human placenta cDNA library. They covered the entire coding region, except the initiation co...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- DNA
- Fatty Acid Desaturases
- Fibroblasts
- Hemiterpenes
- Humans
- Isovaleryl-CoA Dehydrogenase
- Molecular Sequence Data
- Mutation
- Oxidoreductases
- Oxidoreductases Acting on CH-CH Group Donors
- Pentanoic Acids
- RNA, Messenger