Article
Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells.
Biochemical and biophysical research communications - 17 Nov 1997
Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T
Abstract excerpt
We noticed a Japanese male showed low serum butyrylcholinesterase (BCHE) activity on health examination. The phenotyping analysis revealed a reduced dibucaine number (DN) and an especially low fluoride number (FN), similar to an FS phenotype. A homozygous missense mutation, a T to A transversion...
Topics
- Amino Acid Substitution
- Base Sequence
- Butyrylcholinesterase
- DNA Primers
- Dibucaine
- Exons
- Fetus
- Fluorides
- Humans
- Kidney
- Male
- Middle Aged
- Phenotype