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Mutation Report for: H268Y_human-LPL

H268Y_human-LPL
Gene_Locus|human-LPL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.H268Y His268Tyr c.802C>T found in a compound heterozygote with c.808C>G (p.Arg270Gly) The patient was also found to be heterozygous for APOA5 c.-644T>C
    Kinetic parameters|none


    References:
      Title: Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis
      Vidanapathirana DM, Rodrigo T, Waidyanatha S, Jasinge E, Hooper AJ, Burnett JR
      Ref: Glob Pediatr Health, 4:2333794X17715839, 2017 : PubMed

              

      Title: Genotype-phenotype relationships in patients with type I hyperlipoproteinemia
      Chokshi N, Blumenschein SD, Ahmad Z, Garg A
      Ref: J Clin Lipidol, 8:287, 2014 : PubMed

              




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