Article
Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.
The Journal of biological chemistry - 5 Jul 1992
Schafer B L, Bishop R W, Kratunis V J, Kalinowski S S, Mosley S T, Gibson K M, Tanaka R D
Abstract excerpt
Mevalonic aciduria is the first proposed inherited disorder of the cholesterol/isoprene biosynthetic pathway in humans, and it is presumed to be caused by a mutation in the gene coding for mevalonate kinase. To elucidate the molecular basis of this inherited disorder, a 2.0-kilobase human mevalon...
Topics
- Amino Acid Sequence
- Autoradiography
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Cell Line, Transformed
- Cells, Cultured
- Cloning, Molecular
- DNA
- Humans
- Metabolism, Inborn Errors
- Mevalonic Acid
- Molecular Sequence Data
- Mutation
- Phosphotransferases
- Phosphotransferases (Alcohol Group Acceptor)
- RNA
- Sequence Homology, Nucleic Acid