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Mutation Report for: g.-17113T>A_human-ACHE

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|a T-->A substitution, disrupting a putative glucocorticoid response element identified 17 kb upstream of the transcription start site. Allele frequency for this mutation was 0.006 in 333 individuals of various ethnic origins
    Kinetic parameters|none

      Title: A transcription-activating polymorphism in the ACHE promoter associated with acute sensitivity to anti-acetylcholinesterases
      Shapira M, Tur-Kaspa I, Bosgraaf L, Livni N, Grant AD, Grisaru D, Korner M, Ebstein RP, Soreq H
      Ref: Hum Mol Genet, 9:1273, 2000 : 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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