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Mutation Report for: E143D_human-LPL

E143D_human-LPL
Gene_Locus|human-LPL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.E143D Glu143Asp c.429G>T in a patient compound heterozygote with C302S mutation
    Kinetic parameters|none


    References:
      Title: Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
      Rabacchi C, Pisciotta L, Cefalu AB, Noto D, Fresa R, Tarugi P, Averna M, Bertolini S, Calandra S
      Ref: Atherosclerosis, 241:79, 2015 : PubMed

              




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