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Mutation Report for: IVS3E4-14C_human-BCHE

Name Class
IVS3E4-14C_human-BCHEGene_locushuman-BCHE
Mode_of_mutationNatural mutant
ModificationSilent variant Natural mutation
Natural mutant
SummaryNatural mutation;I3E4-14C Silent phenotype, splicing defect;Gatke_2007_Pharmacogenet.Genomics_17_995
Natural mutant;Probably no effect;Parmo-Folloni_2008_Chem.Biol.Interact_175_135
PaperGatke_2007_Pharmacogenet.Genomics_17_995
Parmo-Folloni_2008_Chem.Biol.Interact_175_135
NewsJUNE-18-2008
CommentIVS3E4-14C 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
Xenobiotic_sensitivityDefect in Suxamethonium hydrolysis

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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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