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Mutation Report for: P250R_human-LCAT

P250R_human-LCAT
Gene_Locus|human-LCAT
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|c.821C>G Exon 6 Phenotype (LCATD)
    Kinetic parameters|none


    References:
      Title: Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996
      Maruyama T, Yamashita S, Matsuzawa Y, Bujo H, Takahashi K, Saito Y, Ishibashi S, Ohashi K, Shionoiri F and Kita T <2 more author(s)>
      Ref: J Atheroscler Thromb, 11:131, 2004 : PubMed

              




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