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Mutation Report for: 3bpdelInt1_human-LPL

3bpdelInt1_human-LPL
Gene_Locus|human-LPL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|3bp del (-2 to-4 acceptor site)
    Kinetic parameters|none


    References:
      Title: Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23
      Holzl B, Kraft HG, Wiebusch H, Sandhofer A, Patsch J, Sandhofer F, Paulweber B
      Ref: J Lipid Res, 41:734, 2000 : PubMed

              




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