Article
Characterization of four BCHE mutations associated with prolonged effect of suxamethonium.
The pharmacogenomics journal - 1 Apr 2021
Brazzolotto Xavier, Courcelle Sébastien, Sauvanet Christophe, Guillon Virginia, Igert Alexandre, Kononchik Joseph, Nachon Florian, Ceppa Franck, Delacour Hervé
Abstract excerpt
Butyrylcholinesterase (BChE) deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivacurium) in patients who have mutations in the BCHE gene. Here, we report the characterization of four BCHE mutations associated with prolonged effect of suxamethonium (amino acid numbering based on the matured enzyme): p.20delValPheGlyGlyThrValThr, p.Leu88His, p.Ile140del and...
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