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Mutation Report for: IVS1+1G>C_human-LPL

IVS1+1G>C_human-LPL
Gene_Locus|human-LPL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|homozygous G>C transversion at the first nucleotide of intron 1
    Kinetic parameters|none


    References:
      Title: A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family
      Chimienti G, Capurso A, Resta F, Pepe G
      Ref: Biochemical & Biophysical Research Communications, 187:620, 1992 : PubMed

              




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