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Mutation Report for: L88H_human-BChE

Mode of mutation|Natural mutant
Amino Acid change|L88H
Torpedo number|90
Comment|p.L88H Leu88His c.347T>A. Found in a compound heterozygote state with D70G/A539T (K and Atypycal variant) and deletion of Ile 140 I140del in a 31-year woman with moderate BChE deficiency (1344U/L)
Kinetic parameters|none

    Title: Characterization of four BCHE mutations associated with prolonged effect of suxamethonium
    Brazzolotto X, Courcelle S, Sauvanet C, Guillon V, Igert A, Kononchik J, Nachon F, Ceppa F, Delacour H
    Ref: Pharmacogenomics J, 21(2):165-173:, 2021 : PubMed


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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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