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Mutation Report for: IVS3E4-14C_human-BCHE

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Comment|IVS3E4-14C I3E4-14C altered splicing between Intron 3 and exon 4, nt -14 at the acceptor site of intron 2, T>C found in cis with G115D(G143D) in a patient it is expected that this mutation does not alter splicing process
Kinetic parameters|none

    Title: Two new mutations of the human BCHE gene (IVS3-14T>C and L574fsX576)
    Parmo-Folloni F, Nunes K, Lepienski LM, Mikami LR, Souza RL, Tsuneto LT, Petzl-Erler ML, Chautard-Freire-Maia EA
    Ref: Chemico-Biological Interactions, 175:135, 2008 : PubMed


    Title: Two novel mutations in the BCHE gene in patients with prolonged duration of action of mivacurium or succinylcholine during anaesthesia
    Gatke MR, Bundgaard JR, Viby-Mogensen J
    Ref: Pharmacogenet Genomics, 17:995, 2007 : PubMed


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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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