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Mutation Report for: G33R_human-LCAT

G33R_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|G57R c.169G>C with numbering including signal peptide
    Kinetic parameters|none


    References:
      Title: Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene
      Wiebusch H, Cullen P, Owen JS, Collins D, Sharp PS, Funke H, Assmann G
      Ref: Hum Mol Genet, 4:143, 1995 : PubMed

              




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