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Mutation Report for: A196T_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    Commentp.A196T Ala196Thr c. G>A (p.A174T Ala174Thr in the mature protein without the 22 amino-acids of signal peptide) rs770215498
    References
      Title: Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency
      Ruel IL, Lamarche B, Mauger JF, Badellino KO, Cohn JS, Marcil M, Couture P
      Ref: Arterioscler Thromb Vasc Biol, 25:2600, 2005 : PubMed

              

      Title: Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians
      Ruel IL, Couture P, Gagne C, Deshaies Y, Simard J, Hegele RA, Lamarche B
      Ref: J Lipid Res, 44:1508, 2003 : PubMed

              


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