Article
Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.
Molecular genetics and metabolism - 1 Apr 2005
Souza Ricardo L R, Mikami Liya R, Maegawa Rodrigo O B, Chautard-Freire-Maia Eleidi A
Abstract excerpt
The genetic variation of human butyrylcholinesterase has been associated with height, body mass index, Alzheimer's disease, and response to xenobiotic agents. The present study reports four new mutations, found in the exon 2 of the BCHE gene, in a sample from 3001 Brazilian blood donors. The three nonsynonymous mutations and one synonymous mutation detected are: 223G-->C, G75R; 270A-->C, E90 D; 297T-->G, I99 M;...
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