Article
Five new naturally occurring mutations of the BCHE gene and frequencies of 12 butyrylcholinesterase alleles in a Brazilian population.
Pharmacogenetics and genomics - 1 Mar 2008
Mikami Liya R, Wieseler Stacy, Souza Ricardo L R, Schopfer Lawrence M, Nachon Florian, Lockridge Oksana, Chautard-Freire-Maia Eleidi A
Abstract excerpt
Human butyrylcholinesterase (BChE; EC 3.1.1.8) is codified by the BCHE gene (3q26.1-q26.2) in which 65 variants have been identified. BChE is a scavenger of organophosphorus and carbamate compounds and hydrolyzes succinylcholine, mivacurium and cocaine. The present study describes 12 naturally occurring BCHE mutations including five new mutations (K12R, G15G, V294M, G333C and R470W) identified in 366 blood donors...
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