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Frequencies of the Butyrylcholinesterase K Mutation in Southern Brazilian Population Samples of European and African Origin

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Structure and Function of Cholinesterases and Related Proteins

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

  1. Rubinstein et al. J. Med. Genet., 15:21–29, 1978.

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  2. Shibuta et al. J. Med. Genet., 31:576–579, 1994.

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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

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4899-1542-9

  • Online ISBN: 978-1-4899-1540-5

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