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Mutation Report for: M167fsX239_human-LCAT

M167fsX239_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.576del Exon 5 Phenotype (LCATD)
    Kinetic parameters|none


    References:
      Title: Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA
      Miller M, Zeller K, Kwiterovich PC, Albers JJ, Feulner G
      Ref: J Lipid Res, 36:931, 1995 : PubMed

              




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