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Mutation Report for: I178T_human-LCAT

I178T_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.605T>C Exon 5 Phenotype (Unclassified)
    Kinetic parameters|none


    References:
      Title: Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia
      Recalde D, Cenarro A, Garcia-Otin AL, Gomez-Coronado D, Civeira F, Pocovi M
      Ref: Atherosclerosis, 163:49, 2002 : PubMed

              




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