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Mutation Report for: R99C_human-LCAT

R99C_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.367C>T Exon 3 Phenotype (Fish Eye Disease)
    Kinetic parameters|none


    References:
      Title: Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea
      Blanco-Vaca F, Qu SJ, Fiol C, Fan HZ, Pao Q, Marzal-Casacuberta A, Albers JJ, Hurtado I, Gracia V and Pownall HJ <2 more author(s)>
      Ref: Arterioscler Thromb Vasc Biol, 17:1382, 1997 : PubMed

              




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