Abstract
The K mutation determines a variant butyrylcolinesterase (BChE) whose retarded synthesis or accelerated degradation leads to a 33% reduction of activity in comparison to the usual enzyme (1). The BCHE UK and BCHE K phenotypes are only identified by direct DNA analysis, since the quantitative effect of the K mutation cannot be detected by enzyme inhibition tests.
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References
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Souza, R.L.R., Castro, R.M.V., Pereira, L., Freund, A.A., Culpi, L., Chautard-Freire-Maia, E.A. (1998). Frequencies of the Butyrylcholinesterase K Mutation in Southern Brazilian Population Samples of European and African Origin. In: Doctor, B.P., Taylor, P., Quinn, D.M., Rotundo, R.L., Gentry, M.K. (eds) Structure and Function of Cholinesterases and Related Proteins. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-1540-5_163
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DOI: https://doi.org/10.1007/978-1-4899-1540-5_163
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