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Mutation Report for: Y63X_human-PLA2G7

Gene_Locushuman-PLA2G7 Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.Y63X Tyr63Ter c.191insA (exon 3) found in an heterozygote patient
    References
      Title: Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients
      Ishihara M, Iwasaki T, Nagano M, Ishii J, Takano M, Kujiraoka T, Tsuji M, Hattori H, Emi M
      Ref: J Hum Genet, 49:302, 2004 : PubMed

              


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