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Mutation Report for: F297L_human-LPL

F297L_human-LPL
Gene_Locus|human-LPL
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
    Comment|p.Phe297Leu F297L TTT1065->TTG in exon 6 (Phe270Leu F270L in the mature protein)
    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

              

      Title: A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency
      Takagi A, Ikeda Y, Takeda E, Yamamoto A
      Ref: Biochimica & Biophysica Acta, 1502:433, 2000 : PubMed

              




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