Article
Structural basis of the butyrylcholinesterase H-variant segregating in two Danish families.
Pharmacogenetics - 1 Oct 1992
Jensen F S, Bartels C F, La Du B N
Abstract excerpt
The rare H-variant of human butyrylcholinesterase is a quantitative variant that reduces serum butyrylcholinesterase activity by about 90%. Individuals who are heterozygous for both the H-variant and the atypical variant are abnormally sensitive to the muscle relaxant succinylcholine. By using standard phenotypic serum assays, the Danish Cholinesterase Research Unit identified four individuals from two unrelated...
Topics
- Amino Acid Sequence
- Base Sequence
- Butyrylcholinesterase
- DNA
- DNA Mutational Analysis
- Denmark
- Female
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Pedigree