Article
Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576).
Chemico-biological interactions - 25 Sept 2008
Parmo-Folloni Fernando, Nunes Kelly, Lepienski Luís M, Mikami Liya R, Souza Ricardo L R, Tsuneto Luiza T, Petzl-Erler Maria Luiza, Chautard-Freire-Maia Eleidi A
Abstract excerpt
The genetic variation of human butyrylcholinesterase is associated with the majority of prolonged cases of apnea in patients submitted to the muscle relaxant succinylcholine. The present study reports two new mutations of the BCHE gene in 346 Euro-Brazilians: IVS3-14T>C found in five heterozygotes (allele frequency: 0.72+/-0.32%) and L574fsX576 found in one heterozygote (allele frequency: 0.14+/-0.14%). These two...
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