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Mutation Report for: T128A_human-LPL

T128A_human-LPL
Gene_Locus|human-LPL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Thr128Ala T128A ACC->GCC (T101A Thr101Ala frameshift stop62 in the mature protein which do not count signal peptide)
    Kinetic parameters|none


    References:
      Title: Assessment of French patients with LPL deficiency for French Canadian mutations
      Foubert L, De Gennes JL, Lagarde JP, Ehrenborg E, Raisonnier A, Girardet JP, Hayden MR, Benlian P
      Ref: Journal of Medical Genetics, 34:672, 1997 : PubMed

              

      Title: Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
      Benlian P, De Gennes JL, Foubert L, Zhang H, Gagne SE, Hayden M
      Ref: N Engl J Med, 335:848, 1996 : PubMed

              




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