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Mutation Report for: L125F_human-BCHE

L125F_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|L125F
Torpedo number|127
Summary|
Comment|p.L125F Leu125Phe (p.L153F Leu153Phe in primary sequence with 28 amino-acids signal peptide) Silent phenotype
Kinetic parameters|none


References:
    Title: Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene
    Primo-Parmo SL, Bartels CF, Wiersema B, van der Spek AF, Innis JW, La Du BN
    Ref: American Journal of Human Genetics, 58:52, 1996 : 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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