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Mutation Report for: V204D_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|V204D
Torpedo number|206
Comment|p.V204D Val204Asp (p.V232D Val232Asp in primary sequence with 28 amino-acids signal peptide) prolonged neuromuscular block after administration of suxamethonium
Kinetic parameters|none

    Title: Characterization of a Novel BCHE Silent Allele: Point Mutation (p.Val204Asp) Causes Loss of Activity and Prolonged Apnea with Suxamethonium
    Delacour H, Lushchekina SV, Mabboux I, Bousquet A, Ceppa F, Schopfer LM, Lockridge O, Masson P
    Ref: PLoS ONE, 9:e101552, 2014 : 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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