Article
DNA mutations associated with the human butyrylcholinesterase J-variant.
American journal of human genetics - 1 May 1992
Bartels C F, James K, La Du B N
Abstract excerpt
The J-variant of human serum butyrylcholinesterase (BChE) causes both an approximately two-thirds reduction of circulating enzyme molecules and a corresponding decrease in the level of BChE activity present in serum. Since the level of serum BChE activity and the duration of succinylcholine apnea are inversely correlated, this marked decrease in activity makes individuals with the J-variant more susceptible than...
Topics
- Amino Acid Sequence
- Butyrylcholinesterase
- Deoxyribonucleases, Type II Site-Specific
- Female
- Genetic Linkage
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree