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Mutation Report for: L88H_human-BChE

Name Class
L88H_human-BChETorpedo_number90
AA_ChangeL88H
Mode_of_mutationNatural mutant
SummaryNatural mutation; two third of normal activity;Brazzolotto_2021_Pharmacogenomics.J_21_165
PaperBrazzolotto_2021_Pharmacogenomics.J_21_165
Commentp.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)

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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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