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Mutation Report for: -14X_human-LCAT

-14X_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.31delG Exon 1 Phenotype (LCATD)
    Kinetic parameters|none


    References:
      Title: Depletion in LpA-I:A-II particles enhances HDL-mediated endothelial protection in familial LCAT deficiency
      Gomaraschi M, Ossoli A, Castelnuovo S, Simonelli S, Pavanello C, Balzarotti G, Arca M, Di Costanzo A, Sampietro T and Calabresi L <4 more author(s)>
      Ref: J Lipid Res, 58:994, 2017 : PubMed

              

      Title: The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families
      Calabresi L, Pisciotta L, Costantin A, Frigerio I, Eberini I, Alessandrini P, Arca M, Bon GB, Boscutti G and Franceschini G <17 more author(s)>
      Ref: Arterioscler Thromb Vasc Biol, 25:1972, 2005 : PubMed

              




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